Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003448737 | SCV004176403 | uncertain significance | Familial isolated congenital asplenia | 2023-03-01 | criteria provided, single submitter | clinical testing | The missense c.508T>G(p.Ser170Ala) variant in RPSA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Ser at position 170 is changed to a Ala changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ser170Ala in RPSA is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. |