ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1150+20G>A

gnomAD frequency: 0.00001  dbSNP: rs752653792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853363 SCV000996231 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2018-12-31 criteria provided, single submitter clinical testing This variant has not been previously reported or functionally characterized in the literature to our knowledge, but a variant at the adjacent nucleotide (c.*7+6T>C) has been previously reported in a patient with molybdenum cofactor deficiency (PMID: 19544009). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.002% (6/251428) and thus is presumed to be rare. Multiple splice prediction tools suggest this variant is likely interfere with normal splicing. Based on the available evidence, the c.*7+5G>A variant is classified as a variant of uncertain significance.
Invitae RCV000853363 SCV002171308 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-08-24 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the MOCS1 gene. It does not directly change the encoded amino acid sequence of the MOCS1 protein. This variant is present in population databases (rs752653792, gnomAD 0.01%). This variant has been observed in individual(s) with molybdenum cofactor deficiency (PMID: 32014857). This variant is also known as c.*7+5G>A. ClinVar contains an entry for this variant (Variation ID: 692068). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000853363 SCV004193265 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-04-21 criteria provided, single submitter clinical testing

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