Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001915109 | SCV002176319 | uncertain significance | not provided | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 81 of the MOCS2B protein (p.Asn81Tyr). This variant is present in population databases (rs555716628, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with MOCS2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1398529). 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 C15"). 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. |
Fulgent Genetics, |
RCV002503531 | SCV002783185 | uncertain significance | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 2022-01-03 | criteria provided, single submitter | clinical testing |