Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725185 | SCV000334735 | likely pathogenic | not provided | 2015-09-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000314247 | SCV000807295 | likely pathogenic | Severe myoclonic epilepsy in infancy | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000725185 | SCV001822952 | pathogenic | not provided | 2020-02-03 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This substitution is predicted to be in the cytoplasmic loop between first and second homologous domains; Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 31864146, 29056246, 22848613, 25326635, 24776920, 17347258, 23891399) |
Prevention |
RCV003955449 | SCV004771920 | likely pathogenic | SCN1A-related condition | 2023-12-15 | criteria provided, single submitter | clinical testing | The SCN1A c.1264G>A variant is predicted to result in the amino acid substitution p.Val422Met. This variant has been reported in two individuals with infantile epilepsy or Dravet syndrome (Kwong et al. 2012. PubMed ID: 22848613; Butler et al. 2017. PubMed ID: 29056246), and in Kwong et al. the variant was determined to be de novo. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. This variant resides on the cytoplasmic side of the S6 segment in a region where disease-associated variants are common (affected residues include 418, 419, 420, 421, and 422; see, HGMD). A gene-specific machine learning-based model for clinical prediction indicates this variant is pathogenic with 93% likelihood (Heyne et al. 2020. PubMed ID 32801145). This variant is interpreted as likely pathogenic. |