ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.915G>A (p.Trp305Ter)

dbSNP: rs2143961567
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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 RCV001905455 SCV002129096 pathogenic Fanconi anemia complementation group O 2022-03-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with ovarian cancer (PMID: 30322717). This sequence change creates a premature translational stop signal (p.Trp305*) 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). This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV003164159 SCV003861278 pathogenic Hereditary cancer-predisposing syndrome 2023-01-11 criteria provided, single submitter clinical testing The p.W305* pathogenic mutation (also known as c.915G>A), located in coding exon 7 of the RAD51C gene, results from a G to A substitution at nucleotide position 915. This changes the amino acid from a tryptophan to a stop codon within coding exon 7. This alteration was identified in an individual diagnosed with colorectal cancer (Xu T et al. Front Oncol, 2020 Oct;10:568911). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. RCV004039889 SCV004933151 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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