ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.170C>G (p.Ala57Gly)

dbSNP: rs1598455307
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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 RCV000822763 SCV000963580 uncertain significance Fanconi anemia complementation group O 2020-03-10 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 is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51C-related disease. This sequence change replaces alanine with glycine at codon 57 of the RAD51C protein (p.Ala57Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine.

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