Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003332078 | SCV004040268 | uncertain significance | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | Published functional studies suggest a damaging effect, as variant may reduce sodium channel functional expression and lead to decrease in Nav1.5 current (Watanabe et al., 2008; Baroni et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 18464934, 29758173, 28878239, 34034907, 22247482) |
OMIM | RCV000009837 | SCV000030058 | pathogenic | Conduction system disorder | 2008-06-01 | no assertion criteria provided | literature only |