ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2472_2473del (p.Ser825fs)

dbSNP: rs1553370310
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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 RCV001857066 SCV002167190 pathogenic Hereditary nonpolyposis colorectal neoplasms 2020-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser825Phefs*10) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 433902).
Myriad Genetics, Inc. RCV003449407 SCV004188127 pathogenic Lynch syndrome 1 2023-08-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000502826 SCV000592549 uncertain significance not provided no assertion criteria provided clinical testing

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