ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp)

gnomAD frequency: 0.00006  dbSNP: rs372246702
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Total submissions: 6
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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 RCV000853356 SCV000996232 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2018-12-31 criteria provided, single submitter clinical testing This variant has been previously reported as in patients with molybdenum cofactor deficiency (PMID: 9921896). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.006% (14/245472) and thus is presumed to be rare. The c.377G>A (p.Gly126Asp) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Based on the available evidence, the c.377G>A (p.Gly126Asp) variant is classified as likely pathogenic.
Invitae RCV000853356 SCV002173523 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 126 of the MOCS1 protein (p.Gly126Asp). This variant is present in population databases (rs372246702, gnomAD 0.01%). This missense change has been observed in individuals with molybdenum cofactor deficiency (PMID: 921896, 32014857; Invitae). ClinVar contains an entry for this variant (Variation ID: 692063). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001528779 SCV004032673 likely pathogenic not provided 2023-08-01 criteria provided, single submitter clinical testing MOCS1: PM3:Strong, PM2, PP3
Baylor Genetics RCV000853356 SCV004193247 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2023-10-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528779 SCV001741116 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528779 SCV001957592 likely pathogenic not provided no assertion criteria provided clinical testing

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