Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680017 | SCV000807456 | uncertain significance | Developmental and epileptic encephalopathy, 14 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 3-year-old female with early-onset epilepsy, failure to thrive, global delays, hemidystonic movements, microcephaly, poor eye contact, nystagmus, cortical atrophy, hypoplastic corpus callosum. Additionally, another mutation affecting this same amino acid has been reported as pathogenic. |