ClinVar Miner

Submissions for variant NM_001378418.1(TCF20):c.2803C>T (p.Gln935Ter)

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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 RCV003127328 SCV003803891 pathogenic Autism spectrum disorder 2020-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003565619 SCV004317267 pathogenic not provided 2023-08-27 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2429889). This variant has not been reported in the literature in individuals affected with TCF20-related conditions. This sequence change creates a premature translational stop signal (p.Gln935*) in the TCF20 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCF20 are known to be pathogenic (PMID: 30739909, 30819258).

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