Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540596 | SCV000633780 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316531 | SCV000851084 | uncertain significance | Inborn genetic diseases | 2016-06-24 | criteria provided, single submitter | clinical testing | The p.G1515C variant (also known as c.4543G>T), located in coding exon 34 of the SPTAN1 gene, results from a G to T substitution at nucleotide position 4543. The glycine at codon 1515 is replaced by cysteine, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Genome- |
RCV001809478 | SCV002056763 | uncertain significance | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing |