ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.1085A>G (p.Lys362Arg)

dbSNP: rs1767214486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336890 SCV001530406 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2018-12-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001336890 SCV002187630 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 362 of the MOCS1 protein (p.Lys362Arg). 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. ClinVar contains an entry for this variant (Variation ID: 1034229). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692577 SCV005188965 uncertain significance not provided criteria provided, single submitter not provided

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