ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.343del (p.Phe114_Val115insTer)

dbSNP: rs2149419438
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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 RCV002012199 SCV002237477 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2021-11-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 creates a premature translational stop signal (p.Val115*) in the MOCS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MOCS1 are known to be pathogenic (PMID: 12754701, 16021469).

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