ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1233dup (p.Lys412fs)

dbSNP: rs2104329942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001899679 SCV002145478 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-07-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys412Glufs*6) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MSH6-related conditions.
Ambry Genetics RCV002361139 SCV002662063 pathogenic Hereditary cancer-predisposing syndrome 2017-02-24 criteria provided, single submitter clinical testing The c.1233dupG pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of G at nucleotide position 1233, causing a translational frameshift with a predicted alternate stop codon (p.K412Efs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003452039 SCV004185762 pathogenic Lynch syndrome 5 2023-08-11 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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