ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.504A>G (p.Val168=)

gnomAD frequency: 0.00037  dbSNP: rs370160994
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Total submissions: 7
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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 RCV001082033 SCV002540699 benign Pitt-Hopkins syndrome 2022-02-18 reviewed by expert panel curation The allele frequency of the p.Val168= variant in TCF4 is 0.057% in European (Non-Finnish) sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The p.Val168= variant is observed in 1 unaffected individual (Baylor Genetics internal database) (BS2_supporting). In summary, p.Val168= variant in TCF4 is classified as benign based on the ACMG/AMP criteria (BA1, BS2_supporting).
GeneDx RCV000128380 SCV000171976 benign not specified 2014-02-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000128380 SCV000597416 likely benign not specified 2015-11-18 criteria provided, single submitter clinical testing
Invitae RCV001082033 SCV000646130 likely benign Pitt-Hopkins syndrome 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727317 SCV000707489 uncertain significance not provided 2017-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316427 SCV000850628 likely benign Inborn genetic diseases 2017-01-24 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.
PreventionGenetics, part of Exact Sciences RCV003935209 SCV004748122 likely benign TCF4-related disorder 2021-11-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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