ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.955C>T (p.Arg319Ter)

dbSNP: rs774902198
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001958894 SCV002243463 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2025-02-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg319*) 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). This variant is present in population databases (rs774902198, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of MOCS1-related conditions (PMID: 22403017). ClinVar contains an entry for this variant (Variation ID: 1459223). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001958894 SCV005668650 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2024-04-08 criteria provided, single submitter clinical testing

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