ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1170del (p.Asn391fs)

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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 RCV003616788 SCV004451874 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2023-04-06 criteria provided, single submitter clinical testing This variant disrupts a region of the MOCS1 protein in which other variant(s) (p.Glu503Alafs*103) have been determined to be pathogenic (PMID: 9731530, 9921896). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with MOCS1-related conditions. This variant is present in population databases (rs758765095, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Asn391Ilefs*20) in the MOCS1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 246 amino acid(s) of the MOCS1 protein. For these reasons, this variant has been classified as Pathogenic.

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