ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127401 SCV003803973 pathogenic Autism spectrum disorder due to AUTS2 deficiency 2022-09-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003395701 SCV004120410 likely pathogenic AUTS2-related disorder 2022-08-24 criteria provided, single submitter clinical testing The AUTS2 c.940C>T variant is predicted to result in premature protein termination (p.Gln314*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in AUTS2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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