ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2271C>G (p.Tyr757Ter)

dbSNP: rs56076152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001987572 SCV002226729 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr757*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 21642682). ClinVar contains an entry for this variant (Variation ID: 1443510). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003453822 SCV004188998 pathogenic Lynch syndrome 1 2023-08-08 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.

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