ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.890C>T (p.Thr297Met)

dbSNP: rs756279357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503808 SCV000597423 uncertain significance not specified 2015-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003617819 SCV004513882 uncertain significance Pitt-Hopkins syndrome 2023-08-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TCF4 protein function. ClinVar contains an entry for this variant (Variation ID: 436966). This missense change has been observed in at least one individual who was not affected with TCF4-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with TCF4-related conditions. This variant is present in population databases (rs756279357, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 297 of the TCF4 protein (p.Thr297Met).

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