ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.643T>G (p.Phe215Val)

dbSNP: rs1170209002
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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 RCV000645476 SCV000767221 uncertain significance Pitt-Hopkins syndrome 2017-10-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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 disease. This sequence change replaces phenylalanine with valine at codon 215 of the TCF4 protein (p.Phe215Val). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and valine. This variant is not present in population databases (ExAC no frequency).

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