Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497729 | SCV000589732 | uncertain significance | not provided | 2017-06-07 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SCN2A gene. The L1242F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L1242F variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L1242F variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However this substitution alters a conserved position predicted to be within the transmembrane segment S2 of the third homologous domain. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Ambry Genetics | RCV000623062 | SCV000741583 | uncertain significance | Inborn genetic diseases | 2016-06-09 | criteria provided, single submitter | clinical testing |