ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.807dup (p.Lys270Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003182649 SCV003867478 pathogenic Hereditary cancer-predisposing syndrome 2023-01-27 criteria provided, single submitter clinical testing The c.807dupT pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of T at nucleotide position 807, causing a translational frameshift with a predicted alternate stop codon (p.K270*). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. RCV003336830 SCV004043952 pathogenic Lynch syndrome 5 2023-06-29 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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