ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2044G>A (p.Ala682Thr)

gnomAD frequency: 0.00001  dbSNP: rs559596886
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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 RCV001301350 SCV001490516 uncertain significance Multiple gastrointestinal atresias 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 682 of the TTC7A protein (p.Ala682Thr). This variant is present in population databases (rs559596886, gnomAD 0.02%). 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: 1004617). 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. 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.
Ambry Genetics RCV002539467 SCV003646466 uncertain significance Inborn genetic diseases 2021-06-23 criteria provided, single submitter clinical testing The c.2044G>A (p.A682T) alteration is located in exon 18 (coding exon 18) of the TTC7A gene. This alteration results from a G to A substitution at nucleotide position 2044, causing the alanine (A) at amino acid position 682 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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