ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1000dup (p.Ser334fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039635 SCV001203172 pathogenic Molybdenum cofactor deficiency, complementation group A 2019-11-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser334Phefs*2) in the MOCS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with molybdenum cofactor deficiency (PMID: 21031595). Loss-of-function variants in MOCS1 are known to be pathogenic (PMID: 12754701, 16021469). For these reasons, this variant has been classified as Pathogenic.

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