ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.206G>A (p.Arg69Gln)

gnomAD frequency: 0.00002  dbSNP: rs374933674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705709 SCV000834720 uncertain significance MOGS-congenital disorder of glycosylation 2022-06-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 581783). This variant has not been reported in the literature in individuals affected with MOGS-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 69 of the MOGS protein (p.Arg69Gln).
Ambry Genetics RCV002533737 SCV003532285 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.206G>A (p.R69Q) alteration is located in exon 1 (coding exon 1) of the MOGS gene. This alteration results from a G to A substitution at nucleotide position 206, causing the arginine (R) at amino acid position 69 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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