ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.1851T>A (p.His617Gln)

gnomAD frequency: 0.00079  dbSNP: rs199939051
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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 RCV000768270 SCV000898831 uncertain significance MOGS-congenital disorder of glycosylation 2021-03-30 criteria provided, single submitter clinical testing MOGS NM_006302.2 exon 4 p.His617Gln (c.1851T>A): This variant has not been reported in the literature but is present in 0.5% (147/25782) of Finnish alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/2-74689065-A-T). This variant is present in ClinVar (Variation ID:337106). This variant amino acid Glutamine (Gln) is present in >30 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000768270 SCV001012794 likely benign MOGS-congenital disorder of glycosylation 2023-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950165 SCV004762455 likely benign MOGS-related condition 2019-11-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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