ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1237C>T (p.Gln413Ter) (rs863225387)

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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 RCV000490844 SCV000580399 pathogenic Hereditary cancer-predisposing syndrome 2018-12-07 criteria provided, single submitter clinical testing The p.Q413* pathogenic mutation (also known as c.1237C>T), located in coding exon 7 of the MSH2 gene, results from a C to T substitution at nucleotide position 1237. This changes the amino acid from a glutamine to a stop codon within coding exon 7. This mutation was described in a family meeting Amsterdam II criteria, in which the proband had a personal history of endometrial cancer, and family history was significant for endometrial, colorectal, and stomach cancer (<span style="background-color:initial">Thodi G et al. BMC Cancer 2010 Oct;10:544). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000202046 SCV000257127 likely pathogenic not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000202046 SCV001741228 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000202046 SCV001953159 pathogenic not provided no assertion criteria provided clinical testing

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