Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189545 | SCV000243188 | pathogenic | not provided | 2013-08-27 | criteria provided, single submitter | clinical testing | c.6923_6928dupGCATGC: p.Arg2308_Met2309dup (R2308_M2309dup) in exon 53 of the SPTAN1 gene (NM_001130438.1). The normal sequence with the bases that are duplicated in braces is: CATG{CGCATG}. The c.6923_6928dupGCATGC mutation in the SPTAN1 gene has been previously reported as a de novo mutation in an individual with early-onset West syndrome and cerebellar hypomyelination (Saitsu et al., 2010). It results in an in-frame duplication of two highly conserved amino acids in the last spectrin repeat of the protein, and functional studies indicate the c.6923_6928dupGCATGC mutation leads to the aggregation of alpha/beta spectrin heterodimers (Saitsu et al., 2010). Therefore, c.6923_6928dupGCATGC is interpreted as pathogenic. The variant is found in INFANT-EPI panel(s). |
Neurogenetics Laboratory - |
RCV000416988 | SCV000494544 | pathogenic | Epileptic encephalopathy | 2016-11-16 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001195886 | SCV001366310 | likely pathogenic | Developmental and epileptic encephalopathy, 5 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP4. |
Institute of Human Genetics, |
RCV001195886 | SCV002026331 | likely pathogenic | Developmental and epileptic encephalopathy, 5 | 2017-09-01 | criteria provided, single submitter | research | |
Ce |
RCV000189545 | SCV002821970 | pathogenic | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | SPTAN1: PS2, PM2, PM4, PS4:Moderate, PP4 |
OMIM | RCV001195886 | SCV000033974 | pathogenic | Developmental and epileptic encephalopathy, 5 | 2010-06-11 | no assertion criteria provided | literature only |