Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548002 | SCV000639631 | pathogenic | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2022-08-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1589 of the SCN2A protein (p.Tyr1589Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with benign familial neonatal-infantile seizures (BFNIS) (PMID: 23758435). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 464912). 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"). Experimental studies have shown that this missense change affects SCN2A function (PMID: 23758435). |
Center of Genomic medicine, |
RCV000857242 | SCV000999829 | likely pathogenic | Seizures, benign familial infantile, 3 | 2018-08-13 | criteria provided, single submitter | clinical testing | |
Channelopathy- |
RCV002319532 | SCV002605495 | not provided | Complex neurodevelopmental disorder | no assertion provided | literature only |