ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.692C>G (p.Ser231Ter)

gnomAD frequency: 0.00001  dbSNP: rs1060502588
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773940 SCV000907640 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 4 of the RAD51C gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of RAD51C function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001067488 SCV001232554 pathogenic Fanconi anemia complementation group O 2022-03-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser231*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 24549055). ClinVar contains an entry for this variant (Variation ID: 629241). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000773940 SCV003861288 pathogenic Hereditary cancer-predisposing syndrome 2023-02-17 criteria provided, single submitter clinical testing The p.S231* pathogenic mutation (also known as c.692C>G), located in coding exon 4 of the RAD51C gene, results from a C to G substitution at nucleotide position 692. This changes the amino acid from a serine to a stop codon within coding exon 4. This alteration has been identified in a cohort of high-risk breast/ovarian cancer patients (Castéra L et al. Eur J Hum Genet, 2014 Nov;22:1305-13). In addition to the clinical data presented in the literature, 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. RCV004027258 SCV004932581 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 termination codon and is predicted to result in premature protein truncation.

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