ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1923G>A (p.Glu641=)

gnomAD frequency: 0.00067  dbSNP: rs76956936
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000150096 SCV000111338 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000150096 SCV000171985 benign not specified 2013-05-22 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 RCV000150096 SCV000195183 likely benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280945 SCV000409524 likely benign Pitt-Hopkins syndrome 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000280945 SCV000646121 likely benign Pitt-Hopkins syndrome 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313754 SCV000847863 likely benign Inborn genetic diseases 2016-09-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Athena Diagnostics Inc RCV000858710 SCV001146124 benign not provided 2018-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000858710 SCV002563476 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing TCF4: BP4, BP7, BS1

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