Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003338030 | SCV004048574 | uncertain significance | Glycosylphosphatidylinositol biosynthesis defect 15 | criteria provided, single submitter | clinical testing | The missense variant in c.578A>G in GPAA1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu193Gly variant is novel (not in any individuals) in 1000 Genomes and has allele frequency of 0.002% in gnomAD database. The amino acid Glu at position 193 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The amino acid change p.Glu193Gly in GPAA1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS). |