ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.1A>G (p.Met1Val)

dbSNP: rs1359444986
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002021960 SCV002259116 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing Disruption of the initiator codon has been observed in individual(s) with mitochondrial complex I deficiency (PMID: 21150889). Studies have shown that disruption of the initiator codon alters NDUFS1 gene expression (PMID: 21150889). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the NDUFS1 mRNA. The next in-frame methionine is located at codon 42.

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