ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter)

dbSNP: rs1598449660
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010939 SCV001171204 pathogenic Hereditary cancer-predisposing syndrome 2022-01-14 criteria provided, single submitter clinical testing The p.E45* pathogenic mutation (also known as c.133G>T), located in coding exon 1 of the RAD51C gene, results from a G to T substitution at nucleotide position 133. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. This alteration was seen in a Japanese patient with unilateral breast cancer (Kaneyasu T et al. NPJ Breast Cancer, 2020 Jun;6:25). 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.
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030585 SCV001193721 likely pathogenic Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001860653 SCV002145666 pathogenic Fanconi anemia complementation group O 2021-10-10 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: 818891). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32566746). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu45*) 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).
Myriad Genetics, Inc. RCV004030308 SCV004932405 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.

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