ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1036T>G (p.Ser346Ala)

gnomAD frequency: 0.00001  dbSNP: rs2057694590
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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 RCV001202549 SCV001373664 uncertain significance Pitt-Hopkins syndrome 2019-10-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with TCF4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with alanine at codon 346 of the TCF4 protein (p.Ser346Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine.

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