ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.464C>G (p.Ala155Gly)

dbSNP: rs777452778
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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 RCV001057541 SCV001222039 uncertain significance Fanconi anemia complementation group O 2019-05-30 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 155 of the RAD51C protein (p.Ala155Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with RAD51C-related conditions. 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"). 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.

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