ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.37G>T (p.Asp13Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003319577 SCV004023360 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2023-08-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 13 of the RAD51C protein (p.Asp13Tyr). The aspartic acid residue is weakly conserved (PhyloP=2.6). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar not contains an entry for this variant but same amino acid reported in clinvar p.Asp13His (ID: 409863) and p.Asp13Asn (ID: 568432) . In-silico predictions show benign computational verdict based on BayesDel_addAF, DANN, EIGEN, FATHMM-MKL, LIST-S2, MVP, MutationAssessor MutationTaster, , PolyPhen and M-CAP. 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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