ClinVar Miner

Submissions for variant NM_006302.3(MOGS):c.1851T>A (p.His617Gln) (rs199939051)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000376945 SCV000432076 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768270 SCV000898831 uncertain significance Congenital disorder of glycosylation type 2B 2018-10-15 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 Congenital disorder of glycosylation type 2B 2019-12-31 criteria provided, single submitter clinical testing

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