Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502637 | SCV000596973 | pathogenic | Developmental and epileptic encephalopathy, 11 | 2017-01-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000796982 | SCV000936518 | pathogenic | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2022-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 436662). This premature translational stop signal has been observed in individual(s) with autism spectrum disorder (PMID: 27824329). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg856*) in the SCN2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN2A are known to be pathogenic (PMID: 28379373). |
Mendelics | RCV000986853 | SCV001135996 | likely pathogenic | Seizures, benign familial infantile, 3 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003126772 | SCV003803553 | pathogenic | not provided | 2023-10-13 | 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31272037, 31440721, 35741772, 33004838, 29351919, 30564305, 27824329) |