ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)

dbSNP: rs1553361231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629684 SCV000750640 pathogenic Hereditary nonpolyposis colorectal neoplasms 2017-11-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MSH2-related disease. This sequence change creates a premature translational stop signal (p.Phe447Leufs*20) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003451483 SCV004186998 pathogenic Lynch syndrome 1 2023-08-01 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003451483 SCV004196924 likely pathogenic Lynch syndrome 1 2021-11-30 criteria provided, single submitter clinical testing

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