ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1106T>A (p.Met369Lys)

gnomAD frequency: 0.00006  dbSNP: rs200072824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060714 SCV001225418 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 369 of the MOCS1 protein (p.Met369Lys). This variant is present in population databases (rs200072824, gnomAD 0.009%). 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: 855439). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508183 SCV001714162 uncertain significance not provided 2020-07-16 criteria provided, single submitter clinical testing

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