ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1102+2T>C

gnomAD frequency: 0.00001  dbSNP: rs1345407391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002016843 SCV002301394 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2023-12-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 of the MOCS1 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (no rsID available, gnomAD 0.0009%). Disruption of this splice site has been observed in individuals with molybdenum cofactor deficiency (PMID: 9921896, 27289259). ClinVar contains an entry for this variant (Variation ID: 1511609). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant disrupts a region of the MOCS1 protein in which other variant(s) (p.Glu503Alafs*103) have been determined to be pathogenic (PMID: 9731530, 9921896). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002016843 SCV004193258 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2023-06-29 criteria provided, single submitter clinical testing

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