ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003397845 SCV004112120 likely pathogenic MOCS1-related disorder 2023-04-19 criteria provided, single submitter clinical testing The MOCS1 c.306_309dupGACC variant is predicted to result in a frameshift and premature protein termination (p.Thr104Aspfs*86). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in MOCS1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Baylor Genetics RCV003466075 SCV004193260 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2023-02-11 criteria provided, single submitter clinical testing
Invitae RCV003466075 SCV004557873 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-12-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr104Aspfs*86) 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 has not been reported in the literature in individuals affected with MOCS1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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