ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2938_2941dup (p.Thr981fs)

dbSNP: rs2112106537
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002390 SCV002228081 pathogenic not provided 2022-09-22 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.Thr981Argfs*6) in the MSH3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH3 are known to be pathogenic (PMID: 27476653). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1453405). For these reasons, this variant has been classified as Pathogenic.

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