ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.508G>A (p.Val170Met)

dbSNP: rs2091604712
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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 RCV001244455 SCV001417675 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2019-10-15 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RAD51D-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 170 of the RAD51D protein (p.Val170Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine.
Ambry Genetics RCV004034781 SCV005019435 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-02 criteria provided, single submitter clinical testing The p.V170M variant (also known as c.508G>A), located in coding exon 6 of the RAD51D gene, results from a G to A substitution at nucleotide position 508. The valine at codon 170 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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