G1606A

# **General Information**

| **Position** | **1606** | **Variant** | **m.1606G\>A** | **Locus** | **MT\-TV** | **RNA** | **tRNA Val** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[VUS\*] |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.1606G\>A** variant in MT\-TV has been reported in 2 pedigrees. To date, 3 carriers have been reported. Reported mutation loads ranged from 10% to 70%, with a median of 67% overall; affected carriers showed mutation loads from 67% to 70%, with a median of 68\.5%; unaffected carriers showed mutation loads from 10%, with a median of 10%. The main clinical manifestations among affected carriers included cataracts, hearing loss, mental deterioration, seizures, progressive ataxia, ataxia, hypothyroidism, migraine, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1606 | m.1606G\>A |[ G1606A\-F1](https://mitofam.com/doc/853/) | Italy | Progressive ataxia, seizures, mental deterioration, mild myopathy, hearing loss, cataracts, myoclonus | 2 | 0 | 1998 | [9450773](https://pubmed.ncbi.nlm.nih.gov/9450773/) |  |
| 2 | 1606 | m.1606G\>A | G1606A\-F2 | USA | Hearing loss, migraine, ataxia, seizures, cataracts, retinitis pigmentosa, mental deterioration, hypothyroidism | 2 | 0 | 2002 | [12056939](https://pubmed.ncbi.nlm.nih.gov/12056939/) |  |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1606 | m.1606G\>A | G1606A\-F1 | G1606A\-F1\-I2 | Fam | F | N | N | A | 76 | / | \<10% | / | / | Healthy |  |
| 2 | 1606 | m.1606G\>A | G1606A\-F1 | G1606A\-F1\-II1 | Fam | M | Y | Y | A | 48 | / | 67% | / | / | Progressive ataxia, seizures, mental deterioration, mild myopathy, hearing loss, cataracts, myoclonus |  |
| 3 | 1606 | m.1606G\>A | G1606A\-F2 | G1606A\-F2\-Ⅱ\-2 | Uninf | M | Y | Y | A | 37 | / | 70% | / | / | Hearing loss, migraine, ataxia, seizures, cataracts, retinitis pigmentosa, mental deterioration, hypothyroidism |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).