ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.481C>T (p.Leu161Phe)

gnomAD frequency: 0.00001  dbSNP: rs755353080
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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 RCV000817906 SCV000958491 uncertain significance Pitt-Hopkins syndrome 2020-09-17 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TCF4-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 161 of the TCF4 protein (p.Leu161Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. 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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