ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.133G>T (p.Glu45Ter) (rs1598449660)

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Total submissions: 2
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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 2018-03-18 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 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 and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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