Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000463594 | SCV000549190 | uncertain significance | Long QT syndrome | 2023-10-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 74 of the CAV3 protein (p.Arg74His). This variant is present in population databases (rs201893621, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CAV3-related conditions. ClinVar contains an entry for this variant (Variation ID: 409256). 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. |
Eurofins Ntd Llc |
RCV000727940 | SCV000855453 | uncertain significance | not provided | 2017-07-13 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769172 | SCV000900547 | uncertain significance | Cardiomyopathy | 2015-09-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496772 | SCV002812717 | uncertain significance | Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type | 2021-08-16 | criteria provided, single submitter | clinical testing |