Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000754082 | SCV001516075 | uncertain significance | Multiple gastrointestinal atresias | 2022-08-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 440890). 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. 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"). This missense change has been observed in individual(s) with multiple intestinal atresia, inflammatory bowel disease, and primary immune defects (PMID: 24292712, 29174094). This variant is present in population databases (rs776906926, gnomAD 0.005%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 539 of the TTC7A protein (p.Ser539Leu). |
Mayo Clinic Laboratories, |
RCV001509150 | SCV001715707 | uncertain significance | not provided | 2020-07-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002476020 | SCV002784870 | uncertain significance | Gastrointestinal defects and immunodeficiency syndrome 1 | 2022-04-07 | criteria provided, single submitter | clinical testing | |
OMIM | RCV002476020 | SCV000882418 | pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1 | 2022-01-24 | no assertion criteria provided | literature only |