Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001316407 | SCV001507026 | uncertain significance | Atrial fibrillation, familial, 7 | 2020-06-04 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KCNA5-related conditions. This sequence change replaces cysteine with glycine at codon 586 of the KCNA5 protein (p.Cys586Gly). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and glycine. |
Prevention |
RCV003983874 | SCV004800202 | uncertain significance | KCNA5-related condition | 2024-02-09 | criteria provided, single submitter | clinical testing | The KCNA5 c.1756T>G variant is predicted to result in the amino acid substitution p.Cys586Gly. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |