ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2057A>T (p.Glu686Val)

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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 RCV003073852 SCV003447116 uncertain significance Multiple gastrointestinal atresias 2022-10-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 686 of the TTC7A protein (p.Glu686Val). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TTC7A protein function. This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. This variant is present in population databases (rs775654592, gnomAD 0.02%).

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