ClinVar Miner

Submissions for variant NM_003801.4(GPAA1):c.578A>G (p.Glu193Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM 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).

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