ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile)

dbSNP: rs2144403104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001788532 SCV003321340 uncertain significance Pitt-Hopkins syndrome 2022-08-09 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: "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. ClinVar contains an entry for this variant (Variation ID: 1164050). This variant has not been reported in the literature in individuals affected with TCF4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 606 of the TCF4 protein (p.Thr606Ile).
Pediatric Genetics Clinic, Sheba Medical Center RCV001788532 SCV001712237 pathogenic Pitt-Hopkins syndrome 2021-05-13 no assertion criteria provided clinical testing

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