ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.1730C>A (p.Ala577Asp)

dbSNP: rs1691357817
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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 RCV001992575 SCV002225081 uncertain significance not provided 2021-03-30 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with NDUFS1-related conditions (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.1772C>A (p.Ala591Asp). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with aspartic acid at codon 577 of the NDUFS1 protein (p.Ala577Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid.

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