ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.955C>A (p.Gln319Lys)

dbSNP: rs2145729894
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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 RCV001943064 SCV002185291 uncertain significance Pitt-Hopkins syndrome 2021-08-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 319 of the TCF4 protein (p.Gln319Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with TCF4-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly 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.

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