ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.199G>T (p.Glu67Ter)

dbSNP: rs1567785872
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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 RCV000690554 SCV000818242 pathogenic Fanconi anemia complementation group O 2023-09-20 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: 569830). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu67*) 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).
Ambry Genetics RCV002422492 SCV002717718 pathogenic Hereditary cancer-predisposing syndrome 2017-04-14 criteria provided, single submitter clinical testing The p.E67* pathogenic mutation (also known as c.199G>T), located in coding exon 2 of the RAD51C gene, results from a G to T substitution at nucleotide position 199. This changes the amino acid from a glutamic acid to a stop codon within coding exon 2. 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. RCV004025057 SCV004931503 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 termination codon and is predicted to result in premature protein truncation.
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne RCV000785445 SCV000924017 pathogenic Ovarian neoplasm 2018-12-01 no assertion criteria provided research

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