Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001352355 | SCV001546902 | uncertain significance | Multiple gastrointestinal atresias | 2022-06-22 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 476 of the TTC7A protein (p.Ile476Val). This variant is not present in population databases (gnomAD no frequency). 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: 1047617). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 | RCV003246925 | SCV003939998 | uncertain significance | Inborn genetic diseases | 2023-06-05 | criteria provided, single submitter | clinical testing | The c.1426A>G (p.I476V) alteration is located in exon 12 (coding exon 12) of the TTC7A gene. This alteration results from a A to G substitution at nucleotide position 1426, causing the isoleucine (I) at amino acid position 476 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |