Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988259 | SCV001137913 | pathogenic | Ichthyosis prematurity syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Rady Children's Institute for Genomic Medicine, |
RCV000988259 | SCV001443697 | likely pathogenic | Ichthyosis prematurity syndrome | 2020-03-25 | criteria provided, single submitter | clinical testing | This frameshifting variant in exon 13 of 13 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been reported or functionally characterized in the literature to our knowledge. It is present in the heterozygous state in the gnomAD population database at a frequency of 0.001% (3/251470) and thus is presumed to be rare. Based on the available evidence, the c.1799_1800del (p.Glu600AlafsTer7) variant is classified as Likely Pathogenic. |