ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1905G>A (p.Ala635=)

gnomAD frequency: 0.00274  dbSNP: rs151150677
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128387 SCV000171984 benign not specified 2013-01-31 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 RCV000128387 SCV000249130 likely benign not specified 2015-04-06 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000128387 SCV000333214 benign not specified 2015-07-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000338311 SCV000409525 benign Pitt-Hopkins syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000338311 SCV000646120 benign Pitt-Hopkins syndrome 2021-12-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713807 SCV000844444 benign not provided 2017-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717374 SCV000848224 benign History of neurodevelopmental disorder 2016-07-14 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign

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