Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003338046 | SCV004046919 | uncertain significance | Nicolaides-Baraitser syndrome | criteria provided, single submitter | clinical testing | The missense variant c.875C>T (p.Pro292Leu) in SMARCA2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro292Leu variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Pro at position 292 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT and the residue is conserved across species. The amino acid change p.Pro292Leu in SMARCA2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance . | |
Ce |
RCV003427740 | SCV004161771 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | SMARCA2: PP2, BS2 |