ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1077-1G>C (rs267607944)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076019 SCV000107040 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
Ambry Genetics RCV000491682 SCV000580498 pathogenic Hereditary cancer-predisposing syndrome 2019-06-10 criteria provided, single submitter clinical testing The c.1077-1G>C intronic pathogenic mutation results from a G to C substitution one nucleotide upstream from coding exon 7 of the MSH2 gene. This alteration has been reported in an individual diagnosed with colon cancer at age 36 whose tumor showed microsatellite instability and absent MSH2 staining on IHC (Canard G et al. Ann. Surg. Oncol., 2012 Mar;19:809-16). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.
Color Health, Inc RCV000491682 SCV000684902 likely pathogenic Hereditary cancer-predisposing syndrome 2020-04-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284005 SCV001469548 pathogenic not provided 2019-09-18 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity.

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