Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768280 | SCV000898870 | uncertain significance | Immunodeficiency 23 | 2021-03-30 | criteria provided, single submitter | clinical testing | PGM3 NM_001199917.1 exon 6 p.Lys217Arg (c.650A>G): This variant has not been reported in the literature and is not present in large control databases. This variant amino acid Arginine (Arg) is present in 4 species (Bushbaby, Squirrel, Rat, Star-nosed Mole) 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. |