ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1157T>C (p.Ile386Thr)

gnomAD frequency: 0.00004  dbSNP: rs143594544
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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 RCV001900101 SCV002121562 uncertain significance Pitt-Hopkins syndrome 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 386 of the TCF4 protein (p.Ile386Thr). This variant is present in population databases (rs143594544, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with TCF4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1362287). 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: "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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