Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000992222 | SCV001144306 | uncertain significance | not provided | 2019-05-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002550634 | SCV003524345 | uncertain significance | Spinocerebellar ataxia type 19/22 | 2023-08-08 | criteria provided, single submitter | clinical testing | An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 804954). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 566 of the KCND3 protein (p.Arg566His). This variant is present in population databases (rs761867267, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with KCND3-related conditions. |