ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.2107G>A (p.Ala703Thr)

gnomAD frequency: 0.00001  dbSNP: rs767122069
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199572 SCV000251867 likely pathogenic not provided 2015-08-13 criteria provided, single submitter clinical testing p.Ala703Thr (GCC>ACC): c.2107 G>A in exon 19 in the NDUFS1 gene (NM_005006.5). The A703T variant in the NDUFS1 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The A703T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A703T variant is a non-conservative amino acid substitution, which occurs at a position that is highly conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The A703T variant is a good candidate for a disease-causing mutation, however the possibility it may be a rare benign variant cannot be excluded. This variant has been observed to be maternally inherited. The variant is found in MITONUC-MITOP panel(s).

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