ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3883_3901dup (p.Asn1301delinsThrTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004015484 SCV004842578 likely pathogenic Lynch syndrome 2023-12-15 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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