Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001321967 | SCV001512819 | uncertain significance | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 201 of the MOCS1 protein (p.Glu201Gly). This variant is present in population databases (rs186335243, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with MOCS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1022098). 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: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). 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. |
Baylor Genetics | RCV001321967 | SCV001523542 | uncertain significance | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2019-12-24 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Fulgent Genetics, |
RCV001321967 | SCV002814246 | uncertain significance | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2021-07-04 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004692495 | SCV005188966 | uncertain significance | not provided | criteria provided, single submitter | not provided |