Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000190746 | SCV000244187 | likely pathogenic | Inborn genetic diseases | 2013-08-12 | criteria provided, single submitter | clinical testing | The c.2990G>C (p.R997P) alteration is located in coding exon 25 of the UBE3B gene. This alteration results from a G to C substitution at nucleotide position 2990. The arginine at codon 997 is replaced by proline, an amino acid with dissimilar properties.The missense change is not observed in healthy cohorts:Based on data from the NHLBI Exome Sequencing Project (ESP), the UBE3B c.2990G>C (p.R997P) alteration was not observed among 6,503 individuals tested (0.0%). Allele frequency data for this nucleotide position are not currently available from the 1000 Genomes Project and the alteration is not currently listed in the Database of Single Nucleotide Polymorphisms (dbSNP).The altered amino acid is conserved throughout evolution:The p.R997 amino acid is conserved throughout vertebrates.The alteration is predicted deleterious by in silico models:The p.R997P alteration is predicted to be probably damaging by Polyphen and deleterious by SIFT in silico analyses.Based on the available evidence, the UBE3Bc.2990G>C (p.R997P) alteration is classified as a likely pathogenic mutation. |
| Institute of Human Genetics Munich, |
RCV000578255 | SCV000680423 | pathogenic | Oculocerebrofacial syndrome, Kaufman type | 2017-11-08 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000578255 | SCV002524121 | pathogenic | Oculocerebrofacial syndrome, Kaufman type | 2022-06-03 | no assertion criteria provided | literature only |