Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000171034 | SCV000223598 | uncertain significance | not provided | 2013-03-01 | criteria provided, single submitter | clinical testing | p.Glu29Gln (GAG>CAG): c.85 G>C in the SCN1B gene. The Gly29Gln missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Gly29Gln in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a negatively charged Glutamic acid residue is replaced by an uncharged Glutamine residue. It alters a highly conserved position in the protein, and other missense mutations have been reported in this region in association with epilepsy. Several in silico algorithms predict it may be damaging to protein structure/function while another model suggests it may be benign. Therefore, based on the currently available information, it is unclear whether Gly29Gln is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s). |
| Ambry Genetics | RCV002444687 | SCV002676381 | uncertain significance | Cardiovascular phenotype | 2022-05-30 | criteria provided, single submitter | clinical testing | The p.E29Q variant (also known as c.85G>C), located in coding exon 2 of the SCN1B gene, results from a G to C substitution at nucleotide position 85. The glutamic acid at codon 29 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |