Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001572332 | SCV001796954 | pathogenic | not provided | 2020-08-27 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Observed in hemizygous state in two brothers with severe epileptic encephalopathy with continuous spike-waves in sleep (ECSWS), developmental delay and ADHD; in heterozygous state in a sister with childhood epilepsy with centrotemporal spikes, mild developmental delay and learning difficulties; and in heterozygous state in the mother with febrile seizures (Damiano et al., 2017); This variant is associated with the following publications: (PMID: 31414730, 32245427, 28098945) |
OMIM | RCV000516164 | SCV000612155 | pathogenic | Intellectual disability, X-linked, syndromic, Houge type | 2021-08-19 | no assertion criteria provided | literature only |