ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val)

gnomAD frequency: 0.00004  dbSNP: rs186508321
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Total submissions: 5
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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 RCV000696327 SCV001712017 likely benign Pitt-Hopkins syndrome 2021-03-26 reviewed by expert panel curation The p.Gly428Val variant is observed in at least 2 unaffected individuals (internal database) (BS2). Computational analysis prediction tools suggest that the p.Gly428Val variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gly428Val variant in TCF4 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP4).
Invitae RCV000696327 SCV000824883 likely benign Pitt-Hopkins syndrome 2023-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315997 SCV000848004 likely benign Inborn genetic diseases 2021-09-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001255114 SCV001813103 likely benign not provided 2019-12-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously reported as pathogenic or benign in association with a TCF4-related disorder. The variant has been observed in a patient with schizophrenia and was not identified in 305 control individuals; however, no additional information was provided (Hu et al., 2014).; This variant is associated with the following publications: (PMID: 24126932)
New York Genome Center RCV001255114 SCV001431207 uncertain significance not provided 2019-11-14 no assertion criteria provided clinical testing

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