ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.795del (p.Ala266fs)

dbSNP: rs2143853617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001386782 SCV001587130 pathogenic Fanconi anemia complementation group O 2023-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala266Profs*4) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. ClinVar contains an entry for this variant (Variation ID: 1073709). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002420863 SCV002677464 pathogenic Hereditary cancer-predisposing syndrome 2020-03-06 criteria provided, single submitter clinical testing The c.795delA pathogenic mutation, located in coding exon 5 of the RAD51C gene, results from a deletion of one nucleotide at nucleotide position 795, causing a translational frameshift with a predicted alternate stop codon (p.A266Pfs*4). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV004037683 SCV004932515 pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2024-01-03 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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