Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987625 | SCV001137016 | likely pathogenic | Developmental and epileptic encephalopathy, 65 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003898005 | SCV004718013 | pathogenic | CYFIP2-related condition | 2023-11-03 | criteria provided, single submitter | clinical testing | The CYFIP2 c.259C>A variant is predicted to result in the amino acid substitution p.Arg87Ser. This variant and multiple other substitutions at this amino acid position (Cys, Leu, Pro, His) have been reported in 14 patients with neurodevelopmental disorder, being confirmed as de novo in 13 of the cases with both parents available for testing (Begemann. 2021. PubMed ID: 33149277). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic. |