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