ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.594G>A (p.Lys198=)

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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 RCV003046792 SCV003344176 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-04-06 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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 affects codon 198 of the MOCS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MOCS1 protein. 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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