ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter)

dbSNP: rs2083361357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269848 SCV001450152 likely pathogenic not provided 2016-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001269848 SCV001500272 likely pathogenic not provided 2020-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003393940 SCV004121265 pathogenic SHANK3-related condition 2023-08-11 criteria provided, single submitter clinical testing The SHANK3 c.4972C>T variant is predicted to result in premature protein termination (p.Arg1658*). To our knowledge this variant has not been reporting in the literature. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in SHANK3 are expected to be pathogenic. This variant is interpreted as pathogenic.

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