Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520906 | SCV000618006 | uncertain significance | not provided | 2023-09-12 | criteria provided, single submitter | clinical testing | This substitution is predicted to be within the C-terminal cytoplasmic domain; Missense variants in this gene are often considered pathogenic (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign in association with a neurodevelopmental disorder to our knowledge; This variant is associated with the following publications: (PMID: 18804930) |
Invitae | RCV000636264 | SCV000757703 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358408 | SCV002652203 | uncertain significance | Inborn genetic diseases | 2019-05-13 | criteria provided, single submitter | clinical testing | The p.Y1926C variant (also known as c.5777A>G), located in coding exon 26 of the SCN1A gene, results from an A to G substitution at nucleotide position 5777. The tyrosine at codon 1926 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000520906 | SCV003932188 | uncertain significance | not provided | 2023-01-12 | criteria provided, single submitter | clinical testing | PP2, PP3 |