ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp)

gnomAD frequency: 0.00006  dbSNP: rs201889779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987691 SCV001137108 likely benign Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000987691 SCV002154087 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 490 of the MOCS1 protein (p.Arg490Trp). This variant is present in population databases (rs201889779, gnomAD 0.02%). 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: 802211). 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: "Probably 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.

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