ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2204del (p.Ile735fs)

dbSNP: rs63750572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076421 SCV000107450 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Labcorp Genetics (formerly Invitae), Labcorp RCV000687066 SCV000814617 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile735Thrfs*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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 90919). This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 8872463). This variant is not present in population databases (gnomAD no frequency).
Myriad Genetics, Inc. RCV003452894 SCV004187925 pathogenic Lynch syndrome 1 2023-08-08 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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