ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1657C>T (p.Leu553=)

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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 RCV002746451 SCV003014094 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-06-18 criteria provided, single submitter clinical testing 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. 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 present in population databases (rs767914870, gnomAD 0.01%). This sequence change affects codon 553 of the MOCS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MOCS1 protein.

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