ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.278T>A (p.Val93Asp)

dbSNP: rs2149419575
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919861 SCV002159109 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2023-02-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1396021). 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. 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with MOCS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 93 of the MOCS1 protein (p.Val93Asp).

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