ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.781G>C (p.Glu261Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003055628 SCV003348271 uncertain significance Pitt-Hopkins syndrome 2022-04-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 261 of the TCF4 protein (p.Glu261Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TCF4-related conditions. 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.

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