ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1642del (p.Leu548fs)

dbSNP: rs1580597385
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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 RCV000806266 SCV000946255 pathogenic not provided 2018-10-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH3 are known to be pathogenic (PMID: 27476653). This variant has not been reported in the literature in individuals with MSH3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu548Tyrfs*7) in the MSH3 gene. It is expected to result in an absent or disrupted protein product.

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