ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.112G>C (p.Ala38Pro)

gnomAD frequency: 0.00001  dbSNP: rs532400782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003106165 SCV003792601 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2023-07-07 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 975449). This variant has not been reported in the literature in individuals affected with MOCS1-related conditions. This variant is present in population databases (rs532400782, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 38 of the MOCS1 protein (p.Ala38Pro).
Ambry Genetics RCV003284132 SCV003957315 likely benign Inborn genetic diseases 2023-03-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252078 SCV001427826 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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