ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.968_971dup (p.Gln324fs)

dbSNP: rs1673070318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040468 SCV001204044 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-05-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln324Hisfs*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 premature translational stop signal has been observed in individual(s) with Lynch syndrome-associated tumors (PMID: 25559809, 29706558; Invitae). This variant is also known as c.967_968insCTCA and Ser323fs. ClinVar contains an entry for this variant (Variation ID: 838837). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003455164 SCV004187928 pathogenic Lynch syndrome 1 2023-07-28 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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