ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.152T>C (p.Val51Ala)

dbSNP: rs1060502962
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469696 SCV000551370 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2022-02-21 criteria provided, single submitter clinical testing 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. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 51 of the RAD51D protein (p.Val51Ala). 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: 410566). 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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