ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.850C>T (p.His284Tyr)

dbSNP: rs869312695
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Total submissions: 4
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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 RCV000209937 SCV004176286 uncertain significance Pitt-Hopkins syndrome 2023-12-06 reviewed by expert panel curation The p.His284Tyr variant in TCF4 has been reported in an individual with a neurodevelopmental phenotype (PMID 28554332). The p.His284Tyr variant is present in two XY individuals in gnomAD v4 (0.0003%) (not sufficient to meet BS1 criteria). Computational prediction analysis tools are inconclusive for this variant. In summary, the p.His284Tyr variant in TCF4 is classified as a Variant of Unknown Significance based on the ACMG/AMP criteria (no criteria met).
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209937 SCV000265577 uncertain significance Pitt-Hopkins syndrome 2015-10-08 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000209937 SCV001496511 uncertain significance Pitt-Hopkins syndrome 2021-08-26 criteria provided, single submitter clinical testing
GeneDx RCV001753630 SCV001985770 uncertain significance not provided 2020-07-10 criteria provided, single submitter clinical testing Reported previously in an individual with severe intellectual disability, hypotonia, macrocephaly, and possible mild periventricular leukomalacia (Bowling et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28554332)

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