Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
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. |