ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.497T>C (p.Val166Ala)

gnomAD frequency: 0.00001  dbSNP: rs765300465
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533482 SCV000650014 uncertain significance Fanconi anemia complementation group O 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 166 of the RAD51C protein (p.Val166Ala). This variant is present in population databases (rs765300465, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 471443). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RAD51C protein function. 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.
Counsyl RCV000663122 SCV000786254 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 2018-03-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268158 SCV002551130 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003316716 SCV004019966 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2023-04-05 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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