ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.669C>G (p.Gly223=)

dbSNP: rs1567726315
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000772260 SCV000905378 likely benign Hereditary cancer-predisposing syndrome 2018-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772260 SCV001187746 likely benign Hereditary cancer-predisposing syndrome 2019-08-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001048064 SCV001212053 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2023-05-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192469 SCV001360606 uncertain significance not specified 2019-11-08 criteria provided, single submitter clinical testing Variant summary: RAD51D c.669C>G (p.Gly223Gly) alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 246376 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.669C>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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