Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003162241 | SCV003915217 | pathogenic | not provided | 2022-10-07 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a damaging effect as A365E showed complete loss of kinase activity and protein instability (Kreis et al., 2007; Duarte et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31843706, 24556213, 12884430, 17537723) |
OMIM | RCV000012326 | SCV000032560 | pathogenic | Intellectual disability, X-linked 30 | 2003-08-01 | no assertion criteria provided | literature only |