ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.13A>T (p.Thr5Ser)

dbSNP: rs1314517659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Cancer Group, L’Institut d'Investigació Biomèdica de Bellvitge RCV001779184 SCV001623517 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2021-05-03 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV001859337 SCV002224687 uncertain significance Fanconi anemia complementation group O 2020-12-01 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RAD51C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 5 of the RAD51C protein (p.Thr5Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine.
Ambry Genetics RCV004038186 SCV005029642 likely benign Hereditary cancer-predisposing syndrome 2024-02-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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