ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.681A>G (p.Pro227=)

dbSNP: rs1177043110
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001429685 SCV001632402 likely benign Fanconi anemia complementation group O 2023-07-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528323 SCV004109967 uncertain significance RAD51C-related disorder 2023-04-24 criteria provided, single submitter clinical testing The RAD51C c.681A>G variant is not predicted to result in an amino acid change (p.=). This variant is predicted to interfere with splicing (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-56780666-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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