Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000646136 | SCV000767893 | likely benign | Atrial fibrillation, familial, 7 | 2023-12-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000646136 | SCV001474433 | uncertain significance | Atrial fibrillation, familial, 7 | 2019-09-15 | criteria provided, single submitter | clinical testing | The KCNA5 c.213_245del, p.Asp72_Pro82del variant (rs144879674) is reported in the literature in two probands affected with atrial fibrillation as well as three affected relatives (Yang 2010). This variant results in an in-frame deletion of 11 residues that encompass a predicted Src SH2 domain binding motif and functional analysis demonstrated that this variant reduces channel activity; however, the clinical relevance of this observation is unknown. (Yang 2010). This variant is reported in ClinVar (Variation ID: 537316) and is found in the general population with an overall allele frequency of 0.079% (147/185,166 alleles) and a South Asian allele frequency of 0.24% in the Genome Aggregation Database. Due to limited information, the clinical significance of this variant is uncertain at this time. |
Gene |
RCV001571532 | SCV001796030 | likely benign | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32577384, 20638934, 32397294) |
Revvity Omics, |
RCV000646136 | SCV003813979 | uncertain significance | Atrial fibrillation, familial, 7 | 2022-02-02 | criteria provided, single submitter | clinical testing |