Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189631 | SCV000243276 | uncertain significance | not specified | 2013-10-10 | criteria provided, single submitter | clinical testing | c.128_130delCCT: p.Ser43del (S43del) in exon 3 of the STXBP1 gene (NM_003165.2).The normal sequence with the bases that are deleted in braces is: TCCT{CCT}GCTG. The c.128_130delCCT variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame deletion of a single Serine residue at a highly conserved position in the protein. To our knowledge, in-frame deletions have not been previously reported in the STXBP1 gene. Therefore, based on the currently available information, it is unclear whether c.128_130delCCT is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s). |
Institute of Human Genetics, |
RCV001262403 | SCV001440259 | uncertain significance | Developmental and epileptic encephalopathy, 4 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000509384 | SCV000607329 | not provided | Early onset epileptic encephalopathy | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Pediatric Department, |
RCV001262403 | SCV001961022 | likely pathogenic | Developmental and epileptic encephalopathy, 4 | 2020-01-09 | no assertion criteria provided | clinical testing |