Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001315878 | SCV001506472 | uncertain significance | Multiple gastrointestinal atresias | 2022-04-04 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 405 of the TTC7A protein (p.Arg405Gln). This variant is present in population databases (rs768367263, gnomAD 0.003%). 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: 1016814). 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: "Probably Damaging"; 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. |
Ambry Genetics | RCV004034376 | SCV004974411 | uncertain significance | Inborn genetic diseases | 2021-08-30 | criteria provided, single submitter | clinical testing | The c.1214G>A (p.R405Q) alteration is located in exon 10 (coding exon 10) of the TTC7A gene. This alteration results from a G to A substitution at nucleotide position 1214, causing the arginine (R) at amino acid position 405 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Breakthrough Genomics, |
RCV004692477 | SCV005187663 | uncertain significance | not provided | criteria provided, single submitter | not provided |