ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1510C>T (p.Arg504Trp)

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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 RCV002938098 SCV003261967 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2025-01-15 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 504 of the MOCS1 protein (p.Arg504Trp). This variant is present in population databases (no rsID available, gnomAD 0.005%). This missense change has been observed in individual(s) with molybdenum cofactor deficiency (PMID: 33552910). ClinVar contains an entry for this variant (Variation ID: 2053285). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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