Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Molecular Genetics, |
RCV000006963 | SCV001548007 | likely pathogenic | Snowflake vitreoretinal degeneration | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001389454 | SCV001590832 | pathogenic | not provided | 2022-10-24 | 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 expected to disrupt KCNJ13 protein function. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects KCNJ13 function (PMID: 18179896, 23255580, 23977131). ClinVar contains an entry for this variant (Variation ID: 6585). This missense change has been observed in individual(s) with snowflake vitreoretinal degeneration (PMID: 18179896). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs121918542, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 162 of the KCNJ13 protein (p.Arg162Trp). |
OMIM | RCV000006963 | SCV000027159 | pathogenic | Snowflake vitreoretinal degeneration | 2013-03-01 | no assertion criteria provided | literature only |