Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000795715 | SCV000935185 | uncertain significance | Multiple gastrointestinal atresias | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 478 of the TTC7A protein (p.Leu478Pro). This variant is present in population databases (rs201100272, gnomAD 0.003%). This missense change has been observed in individual(s) with inflammatory bowel disease and primary immune defects (PMID: 25174867). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 642279). 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: "Benign"; 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. |
Hudson |
RCV000795715 | SCV001190495 | likely pathogenic | Multiple gastrointestinal atresias | 2019-12-18 | criteria provided, single submitter | research | ACMG codes: PM2, PM3, PP3, PP4 |
Baylor Genetics | RCV000795715 | SCV001520481 | likely pathogenic | Multiple gastrointestinal atresias | 2019-12-16 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV002245672 | SCV002513646 | likely pathogenic | not provided | 2022-05-11 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25174867, 31787977) |