ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3839dup (p.Glu1281fs)

dbSNP: rs1572746488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021257 SCV001182849 pathogenic Hereditary cancer-predisposing syndrome 2018-09-18 criteria provided, single submitter clinical testing The c.3839dupA pathogenic mutation, located in coding exon 9 of the MSH6 gene, results from a duplication of A at nucleotide position 3839, causing a translational frameshift with a predicted alternate stop codon (p.E1281Gfs*8). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861014 SCV002175329 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1281Glyfs*8) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 824281). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003455118 SCV004187142 pathogenic Lynch syndrome 5 2023-08-25 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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