ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.168del (p.Ala57fs)

dbSNP: rs2143717943
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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 RCV001946736 SCV002237246 pathogenic Fanconi anemia complementation group O 2023-06-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1455900). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala57Profs*2) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917, 29278735).
Baylor Genetics RCV003464307 SCV004208061 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2021-04-06 criteria provided, single submitter clinical testing

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