Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520985 | SCV000618925 | uncertain significance | not provided | 2017-07-19 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SCN9A gene. The I1326L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I1326L variant is observed in 8/8628 (0.1%) alleles from individuals of East Asian background, including one homozygous individual in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I1326L 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 residue predicted to be within the transmembrane segment S5 of the third homologous domain. In silico analysis is inconsistent in its predictions as to whether or not the variant is 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. |
Invitae | RCV000558811 | SCV000649333 | likely benign | Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 | 2023-11-20 | criteria provided, single submitter | clinical testing |