ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2123C>T (p.Thr708Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002887870 SCV003648986 uncertain significance Inborn genetic diseases 2022-09-19 criteria provided, single submitter clinical testing The c.2123C>T (p.T708I) alteration is located in exon 18 (coding exon 18) of the TTC7A gene. This alteration results from a C to T substitution at nucleotide position 2123, causing the threonine (T) at amino acid position 708 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005099810 SCV005771908 uncertain significance Multiple gastrointestinal atresias 2024-05-23 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 708 of the TTC7A protein (p.Thr708Ile). This variant is present in population databases (rs199554702, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TTC7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 2312646). 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 not expected to disrupt TTC7A protein function with a negative predictive value of 80%. 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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