ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1308dup (p.Val437fs)

dbSNP: rs1060502035
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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 RCV000462783 SCV000548311 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-02-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This sequence change inserts 1 nucleotide in exon 8 of the MSH2 mRNA (c.1308dupT), causing a frameshift at codon 437. This creates a premature translational stop signal (p.Val437Cysfs*6) and is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003449136 SCV004188955 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 RCV003449136 SCV004196936 pathogenic Lynch syndrome 1 2021-06-30 criteria provided, single submitter clinical testing

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