ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.46A>T (p.Met16Leu)

dbSNP: rs2142480504
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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 RCV002045942 SCV002302782 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-05-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1513561). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 16 of the RAD51D protein (p.Met16Leu). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated.
Baylor Genetics RCV002045942 SCV004200420 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-05-12 criteria provided, single submitter clinical testing

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