ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.2123G>A (p.Arg708His)

gnomAD frequency: 0.00041  dbSNP: rs181059661
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641715 SCV000763363 uncertain significance MOGS-congenital disorder of glycosylation 2022-10-22 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 708 of the MOGS protein (p.Arg708His). This variant is present in population databases (rs181059661, 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: 534240). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MOGS protein function. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000641715 SCV001160582 uncertain significance MOGS-congenital disorder of glycosylation 2019-06-17 criteria provided, single submitter clinical testing The MOGS c.2123G>A; p.Arg708His variant (rs181059661), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 534240). This variant is found in the general population with an overall allele frequency of 0.01 % (24/ 249432 alleles) in the Genome Aggregation Database. The arginine at codon 708 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Arg708His variant is uncertain at this time.
Revvity Omics, Revvity RCV000641715 SCV003808887 uncertain significance MOGS-congenital disorder of glycosylation 2022-04-18 criteria provided, single submitter clinical testing

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