Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001302539 | SCV001491752 | uncertain significance | Atrial fibrillation, familial, 7 | 2023-06-17 | criteria provided, single submitter | clinical testing | 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1005634). This variant has not been reported in the literature in individuals affected with KCNA5-related conditions. This variant is present in population databases (rs527534559, gnomAD 0.03%). This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 306 of the KCNA5 protein (p.Pro306Gln). |
Fulgent Genetics, |
RCV001302539 | SCV002794511 | uncertain significance | Atrial fibrillation, familial, 7 | 2021-09-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002539499 | SCV003707344 | uncertain significance | Inborn genetic diseases | 2022-01-26 | criteria provided, single submitter | clinical testing | The c.917C>A (p.P306Q) alteration is located in exon 1 (coding exon 1) of the KCNA5 gene. This alteration results from a C to A substitution at nucleotide position 917, causing the proline (P) at amino acid position 306 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |