Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726422 | SCV000241407 | likely benign | not provided | 2020-05-04 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726422 | SCV000344519 | uncertain significance | not provided | 2016-09-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000704721 | SCV000833681 | uncertain significance | EAST syndrome | 2022-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 230 of the KCNJ10 protein (p.Arg230Trp). This variant is present in population databases (rs149615470, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with KCNJ10-related conditions. ClinVar contains an entry for this variant (Variation ID: 205821). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Prevention |
RCV004537578 | SCV004717541 | uncertain significance | KCNJ10-related disorder | 2023-10-27 | criteria provided, single submitter | clinical testing | The KCNJ10 c.688C>T variant is predicted to result in the amino acid substitution p.Arg230Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.068% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-160011635-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ambry Genetics | RCV004020271 | SCV004889935 | likely benign | Inborn genetic diseases | 2023-10-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |