Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003144737 | SCV003829419 | uncertain significance | Anemia, congenital dyserythropoietic, type 1a | 2022-12-05 | criteria provided, single submitter | clinical testing | |
Rady Children's Institute for Genomic Medicine, |
RCV003144737 | SCV004046124 | likely pathogenic | Anemia, congenital dyserythropoietic, type 1a | criteria provided, single submitter | clinical testing | This variant has been previously reported in the compound heterozygous state in an individual with Congenital Dyserythropoietic Anemia Type Ia (variant is referred to as c.2067C>T; p.Arg687Trp) reported to have a severe manifestation of the disease that included severe neonatal onset anemia and bone abnormalities (PMID: 16098079). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0008% (2/246074) and thus is presumed to be rare. The c.2062C>T (p.Arg688Trp) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Based on the available evidence, the c.2062C>T (p.Arg688Trp) variant is classified as Likely Pathogenic. |