ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1254_1255del (p.Gln419fs)

dbSNP: rs1553412696
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507244 SCV000601505 likely pathogenic not provided 2017-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420279 SCV002677383 pathogenic Hereditary cancer-predisposing syndrome 2018-08-23 criteria provided, single submitter clinical testing The c.1254_1255delTC pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of two nucleotides at nucleotide positions 1254 to 1255, causing a translational frameshift with a predicted alternate stop codon (p.Q419Efs*3). 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. RCV003449449 SCV004185896 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.
All of Us Research Program, National Institutes of Health RCV004003550 SCV004839360 likely pathogenic Lynch syndrome 2023-11-28 criteria provided, single submitter clinical testing This variant is predicted to result in loss of protein function through nonsense-mediated decay or protein truncation. Loss of function is an established mechanism of disease. To date, this variant has not been reported in association with human disease in the medical literature. This variant is absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/).

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