ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.216_220del (p.Pro73fs)

dbSNP: rs786202563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165425 SCV000216154 pathogenic Hereditary cancer-predisposing syndrome 2024-08-23 criteria provided, single submitter clinical testing The c.216_220delACCAA pathogenic mutation, located in coding exon 2 of the RAD51C gene, results from a deletion of 5 nucleotides at nucleotide positions 216 to 220, causing a translational frameshift with a predicted alternate stop codon (p.P73Ifs*6). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002517623 SCV003312428 pathogenic Fanconi anemia complementation group O 2022-02-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 185920). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 32107557). This variant is present in population databases (rs786202563, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Pro73Ilefs*6) 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).
Myriad Genetics, Inc. RCV004019977 SCV004933760 pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2024-01-02 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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