ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.361G>C (p.Ala121Pro)

dbSNP: rs1555568366
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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 RCV001214125 SCV001385791 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2019-08-08 criteria provided, single submitter clinical testing 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 alanine with proline at codon 121 of the RAD51D protein (p.Ala121Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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