ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.535del (p.His179fs)

dbSNP: rs1555594864
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546881 SCV000650016 pathogenic Fanconi anemia complementation group O 2024-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His179Thrfs*5) 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, 29278735). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with RAD51C-related conditions (PMID: 32427313). ClinVar contains an entry for this variant (Variation ID: 471445). RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (internal data). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002350330 SCV002646368 pathogenic Hereditary cancer-predisposing syndrome 2021-08-31 criteria provided, single submitter clinical testing The c.535delC pathogenic mutation, located in coding exon 3 of the RAD51C gene, results from a deletion of one nucleotide at nucleotide position 535, causing a translational frameshift with a predicted alternate stop codon (p.H179Tfs*5). 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.
Baylor Genetics RCV003470763 SCV004208049 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 3 2021-12-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003470763 SCV004933627 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 frameshift predicted to result in premature protein truncation.

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