ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2118del (p.Phe706fs)

dbSNP: rs1572725803
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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 RCV000799397 SCV000939057 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-06-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe706Leufs*30) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). This variant has not been reported in the literature in individuals with MSH6-related conditions. This variant is not present in population databases (ExAC no frequency).
Myriad Genetics, Inc. RCV003453657 SCV004185980 pathogenic Lynch syndrome 5 2023-10-24 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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