ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1010C>T (p.Ser337Phe)

gnomAD frequency: 0.00001  dbSNP: rs774245261
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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 RCV001996769 SCV002218157 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 337 of the MOCS1 protein (p.Ser337Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs774245261, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with MOCS1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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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