ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.507dup (p.Asp170Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477308 SCV004221111 likely pathogenic not provided 2023-05-22 criteria provided, single submitter clinical testing The MSH3 c.507dup (p.Asp170*) variant is predicted to cause the premature termination of MSH3 protein synthesis. This variant has not been reported in individuals with MSH3-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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