ClinVar Miner

Submissions for variant NM_004531.5(MOCS2):c.346_349del (p.Val116fs)

dbSNP: rs398122798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000288995 SCV000457865 uncertain significance Combined molybdoflavoprotein enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003546452 SCV004274774 pathogenic not provided 2023-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val116Asnfs*3) in the MOCS2B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MOCS2B are known to be pathogenic (PMID: 21031595). This variant is present in population databases (rs398122798, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with molybdenum cofactor deficiency (PMID: 10053004). This variant is also known as 533del4. ClinVar contains an entry for this variant (Variation ID: 6110). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006484 SCV000026667 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 1999-03-01 no assertion criteria provided literature only

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