ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1086G>A (p.Trp362Ter)

dbSNP: rs398123560
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV001507025 SCV001711962 likely pathogenic Pitt-Hopkins syndrome 2021-04-02 reviewed by expert panel curation The p.Trp362Ter variant in TCF4 is predicted to cause a premature stop codon that leads to a truncated or absent protein in a TCF4 where loss-of-function is an established mechanism. There is significant evidence that loss of this region of the TCF4 is pathogenic (PVS1). The p.Trp362Ter variant in TCF4 is absent from gnomAD (PM2_Supporting). In summary, the p.Trp362Ter variant in TCF4 is classified as likely pathogenic based on the ACMG/AMP criteria (PVS1, PM2_supporting).
Eurofins Ntd Llc (ga) RCV000494225 SCV000111335 pathogenic not provided 2012-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000494225 SCV000582540 pathogenic not provided 2017-04-27 criteria provided, single submitter clinical testing The W362X nonsense variant in the TCF4 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W362X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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