ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.315A>G (p.Ser105=)

gnomAD frequency: 0.00002  dbSNP: rs876660032
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220432 SCV000277109 likely benign Hereditary cancer-predisposing syndrome 2015-07-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000461218 SCV000560777 likely benign Fanconi anemia complementation group O 2023-12-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000220432 SCV001343364 likely benign Hereditary cancer-predisposing syndrome 2016-03-08 criteria provided, single submitter clinical testing
GeneDx RCV001785524 SCV002028228 uncertain significance not provided 2021-05-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Sema4, Sema4 RCV000220432 SCV002531809 likely benign Hereditary cancer-predisposing syndrome 2020-10-13 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003897501 SCV004710811 likely benign RAD51C-related condition 2022-12-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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