ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.169G>A (p.Ala57Thr)

dbSNP: rs1567785745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776786 SCV000912435 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-28 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 57 of the RAD51C protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001037384 SCV001200795 uncertain significance Fanconi anemia complementation group O 2021-10-05 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 630787). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 57 of the RAD51C protein (p.Ala57Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.

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