ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.487A>G (p.Ser163Gly)

gnomAD frequency: 0.00001  dbSNP: rs1474917865
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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 RCV001974550 SCV002215690 uncertain significance Pitt-Hopkins syndrome 2021-06-28 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 163 of the TCF4 protein (p.Ser163Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. 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. 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 variant has not been reported in the literature in individuals affected with TCF4-related conditions. This variant is not present in population databases (ExAC no frequency).

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