ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.410C>A (p.Ser137Tyr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472537 SCV004200400 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-07-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003585411 SCV004357165 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-18 criteria provided, single submitter clinical testing This missense variant replaces serine with tyrosine at codon 137 of the RAD51D protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003472537 SCV005746942 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2024-03-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 137 of the RAD51D protein (p.Ser137Tyr). 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. 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 expected to disrupt RAD51D protein function with a positive predictive value of 80%. 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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