ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3443del (p.Gly1148fs)

dbSNP: rs1553332151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547566 SCV000624867 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly1148Alafs*3) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH6-related disease. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985844 SCV001134431 pathogenic not provided 2019-06-16 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.

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