ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.734C>T (p.Ala245Val)

dbSNP: rs1555599151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539037 SCV000660416 uncertain significance Fanconi anemia complementation group O 2022-01-10 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 478780). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 245 of the RAD51C protein (p.Ala245Val).
Sema4, Sema4 RCV002256399 SCV002530009 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-25 criteria provided, single submitter curation
Ambry Genetics RCV002256399 SCV002671105 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-11 criteria provided, single submitter clinical testing The p.A245V variant (also known as c.734C>T), located in coding exon 5 of the RAD51C gene, results from a C to T substitution at nucleotide position 734. The alanine at codon 245 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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