ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.736G>A (p.Val246Met)

dbSNP: rs1597858213
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026336 SCV001188697 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-14 criteria provided, single submitter clinical testing The p.V246M variant (also known as c.736G>A), located in coding exon 8 of the RAD51D gene, results from a G to A substitution at nucleotide position 736. The valine at codon 246 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001034998 SCV001198303 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2022-04-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 246 of the RAD51D protein (p.Val246Met). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 826995). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Color Diagnostics, LLC DBA Color Health RCV001026336 SCV001353670 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-08 criteria provided, single submitter clinical testing
Mendelics RCV002249635 SCV002519254 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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