ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.569C>T (p.Thr190Ile)

gnomAD frequency: 0.00001  dbSNP: rs761142818
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001341980 SCV001535877 uncertain significance Multiple gastrointestinal atresias 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 190 of the TTC7A protein (p.Thr190Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs761142818, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. 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"). 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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