ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1150+1G>T

dbSNP: rs2149398895
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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 RCV001886816 SCV002162159 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: 9921896; Invitae; SOURCE: 9731530). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1388733). This sequence change affects a donor splice site in intron 10 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MOCS1-related conditions.
Baylor Genetics RCV001886816 SCV004193264 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-05-23 criteria provided, single submitter clinical testing

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