ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2811T>A (p.Tyr937Ter)

dbSNP: rs1572728785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003450271 SCV004185798 pathogenic Lynch syndrome 5 2023-08-21 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999939 SCV005623457 likely pathogenic not provided 2024-08-21 criteria provided, single submitter clinical testing The MSH6 c.2811T>A (p.Tyr937*) variant is predicted to cause the premature termination of MSH6 protein synthesis. This variant has not been reported in individuals with MSH6-related conditions in the published literature. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic.

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