ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.769A>G (p.Ser257Gly) (rs1567724999)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773066 SCV000906487 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781802 SCV000920133 uncertain significance not specified 2018-09-28 criteria provided, single submitter clinical testing Variant summary: RAD51D c.769A>G (p.Ser257Gly) results in a non-conservative amino acid change, located in the C-terminal subdomain of the AAA+ ATPase domain (IPR003593) that is less conserved across AAA+ proteins (InterPro). Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 246106 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.769A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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