Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171652 | SCV000055198 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV000646137 | SCV000767894 | likely benign | Atrial fibrillation, familial, 7 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000646137 | SCV001160347 | uncertain significance | Atrial fibrillation, familial, 7 | 2019-03-14 | criteria provided, single submitter | clinical testing | The KCNA5 c.634C>T; p.Arg212Cys variant (rs77281462) is reported in the literature in a cohort of individuals not selected for a history of arrhythmia, cardiomyopathy, or a family history of sudden cardiac death (Ng 2013). This variant is reported in ClinVar (Variation ID: 191460) and is found in the African population with an overall allele frequency of 0.18% (46/24940 alleles, including one homozygote) in the Genome Aggregation Database. The arginine at codon 212 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Arg212Cys variant is uncertain at this time. References: Ng D et al. Interpreting secondary cardiac disease variants in an exome cohort. Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. |
Gene |
RCV000171652 | SCV001791581 | likely benign | not provided | 2020-01-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24068186) |
Clinical Genetics, |
RCV000171652 | SCV001920552 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000171652 | SCV001962816 | likely benign | not provided | no assertion criteria provided | clinical testing |