Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000486685 | SCV000572047 | pathogenic | not provided | 2020-01-07 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28708303, 29315614) |
Groupe Hospitalier Pitie Salpetriere, |
RCV003444552 | SCV000586791 | likely pathogenic | Myoclonic-astatic epilepsy | 2017-01-06 | criteria provided, single submitter | clinical testing | Intellectual disability, mild; epilepsy (absence seizures); weight stagnation; hypereosinophilia ; no myoclonic-atonic epilepsy |
Invitae | RCV003595995 | SCV000774465 | pathogenic | Myoclonic-atonic epilepsy | 2023-08-04 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SLC6A1 protein function. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 422549). This missense change has been observed in individual(s) with clinical features of myoclonic-atonic epilepsy (PMID: 28708303, 29315614; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 75 of the SLC6A1 protein (p.Gly75Arg). |