ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1933_1949del (p.Glu645fs)

dbSNP: rs1669395325
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227347 SCV001399700 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-10-14 criteria provided, single submitter clinical testing 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). This sequence change creates a premature translational stop signal (p.Glu645Hisfs*10) in the MSH6 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002411838 SCV002721013 pathogenic Hereditary cancer-predisposing syndrome 2019-04-17 criteria provided, single submitter clinical testing The c.1933_1949del17 pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of 17 nucleotides at nucleotide positions 1933 to 1949, causing a translational frameshift with a predicted alternate stop codon (p.E645Hfs*10). 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. RCV003449716 SCV004187347 pathogenic Lynch syndrome 5 2023-08-16 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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