ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.1826G>A (p.Arg609His)

gnomAD frequency: 0.00014  dbSNP: rs377287243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768271 SCV000898832 uncertain significance MOGS-congenital disorder of glycosylation 2021-03-30 criteria provided, single submitter clinical testing MOGS NM_006302 exon 4 p.Arg609His (c.1826G>A): This variant has not been reported in the literature but is present in 5/24020 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs377287243). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000768271 SCV000940874 uncertain significance MOGS-congenital disorder of glycosylation 2022-08-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 609 of the MOGS protein (p.Arg609His). This variant is present in population databases (rs377287243, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MOGS-related conditions. ClinVar contains an entry for this variant (Variation ID: 626140). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002533942 SCV003561257 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.1826G>A (p.R609H) alteration is located in exon 4 (coding exon 4) of the MOGS gene. This alteration results from a G to A substitution at nucleotide position 1826, causing the arginine (R) at amino acid position 609 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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