ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)

dbSNP: rs63750342
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074987 SCV000108203 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV002326786 SCV002631712 pathogenic Hereditary cancer-predisposing syndrome 2021-05-28 criteria provided, single submitter clinical testing The p.W142* pathogenic mutation (also known as c.426G>A), located in coding exon 2 of the MSH6 gene, results from a G to A substitution at nucleotide position 426. This changes the amino acid from a tryptophan to a stop codon within coding exon 2. This mutation was identified in the germline of an individual with MSI-H colorectal cancer that also showed loss of MSH6 protein expression and whose family met Amsterdam criteria (Plaschke J et al. Hum. Mutat., 2004 Mar;23:285; Steinke V et al. Eur. J. Hum. Genet., 2008 May;16:587-92). 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.
CeGaT Center for Human Genetics Tuebingen RCV003311675 SCV004011159 pathogenic not provided 2023-04-01 criteria provided, single submitter clinical testing MSH6: PVS1, PM2, PS4:Supporting
Myriad Genetics, Inc. RCV003450987 SCV004185684 pathogenic Lynch syndrome 5 2023-08-10 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.
Baylor Genetics RCV003460698 SCV004197732 pathogenic Endometrial carcinoma 2023-09-13 criteria provided, single submitter clinical testing
Pathway Genomics RCV000144625 SCV000189952 pathogenic Lynch syndrome 1 2014-07-24 no assertion criteria provided clinical testing

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