Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000006102 | SCV001443767 | pathogenic | Ichthyosis prematurity syndrome | 2020-03-25 | criteria provided, single submitter | clinical testing | This variant has been previously reported as a compound heterozygous change in multiple individuals with Ichthyosis Prematurity Syndrome (IPS; PMIDs: 19631310, 27224495, 21450060). The p.Gln300Arg variant is a frequent ancestral pathogenic variant in the Scandinavian population (PMID: 27224495). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0005% (14/282772) and thus is presumed to be rare. In silico analyses support a deleterious effect of the c.899A>G (p.Gln300Arg) variant on protein function. Based on the available evidence, the c.899A>G (p.Gln300Arg) variant is classified as Pathogenic. |
OMIM | RCV000006102 | SCV000026284 | pathogenic | Ichthyosis prematurity syndrome | 2009-08-01 | no assertion criteria provided | literature only | |
Perkin |
RCV000006102 | SCV002020693 | pathogenic | Ichthyosis prematurity syndrome | 2021-10-18 | no assertion criteria provided | clinical testing |