ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.746dup (p.Glu251fs)

dbSNP: rs63749832
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228714 SCV001401129 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant has not been reported in the literature in individuals with MSH2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu251Argfs*5) in the MSH2 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002393564 SCV002674151 pathogenic Hereditary cancer-predisposing syndrome 2023-06-07 criteria provided, single submitter clinical testing The c.746dupA pathogenic mutation, located in coding exon 4 of the MSH2 gene, results from a duplication of A at nucleotide position 746, causing a translational frameshift with a predicted alternate stop codon (p.E251Rfs*5). 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.
Myriad Genetics, Inc. RCV003449719 SCV004186812 pathogenic Lynch syndrome 1 2023-07-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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