Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002371240 | SCV002687504 | uncertain significance | Cardiovascular phenotype | 2024-05-26 | criteria provided, single submitter | clinical testing | The c.91G>A (p.A31T) alteration is located in exon 3 (coding exon 1) of the KCNE1 gene. This alteration results from a G to A substitution at nucleotide position 91, causing the alanine (A) at amino acid position 31 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV004721061 | SCV005327287 | uncertain significance | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |
Roden Lab, |
RCV004779323 | SCV005393012 | not provided | Long QT syndrome 5 | no assertion provided | in vitro |