ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln)

gnomAD frequency: 0.00001  dbSNP: rs104893969
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000006493 SCV001530408 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2024-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000006493 SCV001574410 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2024-05-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 319 of the MOCS1 protein (p.Arg319Gln). This variant is present in population databases (rs104893969, gnomAD 0.02%). This missense change has been observed in individuals with molybdenum cofactor deficiency (PMID: 9921896, 35192225). ClinVar contains an entry for this variant (Variation ID: 6119). 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.
PreventionGenetics, part of Exact Sciences RCV003407287 SCV004109108 likely pathogenic MOCS1-related disorder 2023-01-24 criteria provided, single submitter clinical testing The MOCS1 c.956G>A variant is predicted to result in the amino acid substitution p.Arg319Gln. This variant has been reported in the homozygous and presumed compound heterozygous states in individuals with molybdenum cofactor deficiency (Reiss et al. 1998. PubMed ID: 9921896). In one study of MoCo-deficient patients, this variant was identified in 15% of the patients tested (Reiss et al. 1998. PubMed ID: 9921896). This variant is reported in 0.023% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-39880033-C-T) and it reported as pathogenic/likely pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/6119/). This variant is interpreted as likely pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000006493 SCV006056381 likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2021-07-30 criteria provided, single submitter research
OMIM RCV000006493 SCV000026676 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 1998-12-01 no assertion criteria provided literature only

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