ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.604G>A (p.Val202Met)

dbSNP: rs1567726587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694149 SCV000822580 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2022-06-12 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. ClinVar contains an entry for this variant (Variation ID: 572704). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 202 of the RAD51D protein (p.Val202Met).
Ambry Genetics RCV002352149 SCV002658423 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-12 criteria provided, single submitter clinical testing The p.V202M variant (also known as c.604G>A), located in coding exon 7 of the RAD51D gene, results from a G to A substitution at nucleotide position 604. The valine at codon 202 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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