ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) (rs147445499)

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Total submissions: 9
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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, ClinGen RCV001084639 SCV001711969 benign Pitt-Hopkins syndrome 2021-03-26 reviewed by expert panel curation The allele frequency of the p.Ala315Val variant in TCF4 is 0.1% 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.Ala315Val variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Ala315Val variant is found in a patient with an alternate molecular basis of disease (internal database) (BP5). In summary, the p.Ala315Val variant in TCF4 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP5).
Genetic Services Laboratory, University of Chicago RCV000147729 SCV000195194 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000147729 SCV000225558 benign not specified 2016-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000147729 SCV000243360 benign not specified 2016-06-24 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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000147729 SCV000257775 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000422948 SCV000511437 likely benign not provided 2017-01-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001084639 SCV000646139 likely benign Pitt-Hopkins syndrome 2020-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719976 SCV000850850 likely benign History of neurodevelopmental disorder 2018-06-06 criteria provided, single submitter clinical testing Other data supporting benign classification;Subpopulation frequency in support of benign classification
Illumina Clinical Services Laboratory,Illumina RCV001084639 SCV001284502 benign Pitt-Hopkins syndrome 2017-08-14 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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