ClinVar Miner

Submissions for variant NM_001358530.2(MOCS1):c.379G>A (p.Gly127Arg)

dbSNP: rs1321268099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315050 SCV001505606 uncertain significance Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 127 of the MOCS1 protein (p.Gly127Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with molybdenum cofactor deficiency (PMID: 9921896). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Ambry Genetics RCV002543662 SCV003542997 uncertain significance Inborn genetic diseases 2022-08-19 criteria provided, single submitter clinical testing The c.379G>A (p.G127R) alteration is located in exon 2 (coding exon 2) of the MOCS1 gene. This alteration results from a G to A substitution at nucleotide position 379, causing the glycine (G) at amino acid position 127 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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