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 2014-08-14 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 between positions 216 and 220, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Labcorp Genetics (formerly Invitae), Labcorp RCV002517623 SCV003312428 pathogenic Fanconi anemia complementation group O 2022-02-07 criteria provided, single submitter clinical testing 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). For these reasons, this variant has been classified as Pathogenic.
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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