Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000171055 | SCV000223619 | uncertain significance | not provided | 2015-08-05 | criteria provided, single submitter | clinical testing | p.Glu209Asp (GAG>GAC): c.627 G>C in the SCN1B gene. The Glu209Asp missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The amino acid substitution is conservative as both Glutamic acid and Aspartic acid are negatively charged, polar amino acid residues. Glu209Asp alters a position that is not well conserved in the SCN1B protein and several in-silico algorithms predict it is likely non-pathogenic. The variant is found in INFANT-EPI panel(s). |
Ambry Genetics | RCV003372632 | SCV004097366 | uncertain significance | Cardiovascular phenotype | 2023-09-07 | criteria provided, single submitter | clinical testing | The p.E209D variant (also known as c.627G>C), located in coding exon 5 of the SCN1B gene, results from a G to C substitution at nucleotide position 627. The glutamic acid at codon 209 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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. |