Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439821 | SCV000523965 | pathogenic | not provided | 2018-01-31 | criteria provided, single submitter | clinical testing | The G964R variant in the SCN8A gene has been previously reported as a de novo variant by whole exome sequencing in a child with global developmental delay, hypotonia, borderline intellectual disability, social communication disorder, and attention deficit hyperactivity disorder (Wagnon et al., 2017). The G964R variant is not observed in large population cohorts (Lek et al., 2016). The G964R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Functional studies of G964R transfected cells showed a complete loss of sodium channel activity (Wagnon et al., 2017). We interpret G964R as a pathogenic variant. |
OMIM | RCV000766191 | SCV000897622 | pathogenic | COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA | 2019-03-29 | no assertion criteria provided | literature only |