Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics and Laboratory Diagnostics, |
RCV000337286 | SCV000805173 | uncertain significance | Timothy syndrome | 2018-05-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000808464 | SCV000948573 | uncertain significance | Long QT syndrome | 2018-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 813 of the CACNA1C protein (p.Gly813Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs545511851, ExAC 0.01%). This variant has not been reported in the literature in individuals with CACNA1C-related disease. ClinVar contains an entry for this variant (Variation ID: 308139). 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: "Possibly Damaging"; 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. |
Ce |
RCV000994771 | SCV001148525 | uncertain significance | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing |