Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189169 | SCV000242801 | pathogenic | not provided | 2023-08-26 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); 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: 25473036, 25937001, 29655203) |
Center for Pediatric Genomic Medicine, |
RCV000189169 | SCV000280873 | pathogenic | not provided | 2014-05-19 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000679890 | SCV000807294 | pathogenic | Developmental and epileptic encephalopathy, 11 | 2023-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001054289 | SCV001218597 | pathogenic | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2019-12-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with early infantile epileptic encephalopathy (PMID: 25937001, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 207017). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 1626 of the SCN2A protein (p.Arg1626Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. |
Institute Of Human Genetics Munich, |
RCV000679890 | SCV002764872 | pathogenic | Developmental and epileptic encephalopathy, 11 | 2020-12-15 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001265496 | SCV001443640 | likely pathogenic | Complex neurodevelopmental disorder | 2016-02-23 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-02-23 and interpreted as Likely Pathogenic. Variant was initially reported on 2014-03-26 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |
Channelopathy- |
RCV001265496 | SCV004232407 | not provided | Complex neurodevelopmental disorder | no assertion provided | literature only |