Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002629915 | SCV003523714 | uncertain significance | Multiple gastrointestinal atresias | 2022-11-08 | criteria provided, single submitter | clinical testing | 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 (rs541501653, gnomAD 0.08%). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 138 of the TTC7A protein (p.Arg138Pro). |
Ambry Genetics | RCV004072106 | SCV004974425 | uncertain significance | Inborn genetic diseases | 2023-12-20 | criteria provided, single submitter | clinical testing | The c.413G>C (p.R138P) alteration is located in exon 3 (coding exon 3) of the TTC7A gene. This alteration results from a G to C substitution at nucleotide position 413, causing the arginine (R) at amino acid position 138 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |