ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2429del (p.Glu810fs)

dbSNP: rs1572727176
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001449 SCV001158691 pathogenic not specified 2019-03-15 criteria provided, single submitter clinical testing The MSH6 c.2429delA; p.Glu810fs variant, to our knowledge, is not reported in the medical literature or gene-specific databases. However, ARUP Laboratories has detected this variant in an individual with a personal and family histry of colon cancer. The variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Considering available information, this variant is classified as pathogenic.
Ambry Genetics RCV002445160 SCV002735275 pathogenic Hereditary cancer-predisposing syndrome 2021-01-26 criteria provided, single submitter clinical testing The c.2429delA pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of one nucleotide at nucleotide position 2429, causing a translational frameshift with a predicted alternate stop codon (p.E810Gfs*3). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). MSH6 c.2429delA has been observed in at least one individual with a personal and/or family history that is consistent with Lynch syndrome-related disease (Ambry internal data). 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. RCV003455041 SCV004188282 pathogenic Lynch syndrome 5 2023-08-17 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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