ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.363_371delinsC (p.Glu122fs)

dbSNP: rs1567786509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020761 SCV001182278 pathogenic Hereditary cancer-predisposing syndrome 2022-07-27 criteria provided, single submitter clinical testing The c.363_371delAGAAATTTGinsC pathogenic mutation, located in coding exon 2 of the RAD51C gene, results from the deletion of 9 nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.E122Wfs*30). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.

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