ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp)

gnomAD frequency: 0.00002  dbSNP: rs757431407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308726 SCV001498195 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-09-19 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 112 of the MOCS1 protein (p.Arg112Trp). This variant is present in population databases (rs757431407, 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: 1010994). 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: "Benign"; 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.
CeGaT Center for Human Genetics Tuebingen RCV003326562 SCV004032674 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing MOCS1: BP2
PreventionGenetics, part of Exact Sciences RCV003405528 SCV004106123 uncertain significance MOCS1-related disorder 2022-09-20 criteria provided, single submitter clinical testing The MOCS1 c.334C>T variant is predicted to result in the amino acid substitution p.Arg112Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.022% of alleles in individuals of East Asian descent in gnomAD ( At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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