Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | RCV000505637 | SCV000787486 | likely pathogenic | Developmental and epileptic encephalopathy, 41 | 2018-04-16 | criteria provided, single submitter | curation | This variant is interpreted as a Likely Pathogenic, for Epileptic encephalopathy, early infantile, 41, Autosomal Dominant inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:28777935). PS3-Supporting => PS3 downgraded in strength to Supporting (PMID:24214974) (PMID:23107647). |
| Invitae | RCV003558430 | SCV004294758 | pathogenic | not provided | 2022-12-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SLC1A2 function (PMID: 34961934). 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 expected to disrupt SLC1A2 protein function. ClinVar contains an entry for this variant (Variation ID: 438737). This missense change has been observed in individual(s) with SLC1A2-related conditions (PMID: 28777935). 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 proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 289 of the SLC1A2 protein (p.Pro289Arg). |
| OMIM | RCV000505637 | SCV000599889 | pathogenic | Developmental and epileptic encephalopathy, 41 | 2020-11-19 | no assertion criteria provided | literature only |