Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171621 | SCV000055191 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Gene |
RCV000171621 | SCV000572541 | uncertain significance | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | Reported in a patient with primary electrical disease, defined as cardiac arrhythmia in the absence of structural heart disease, but was also identified in the control cohort (Proost et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015); This variant is associated with the following publications: (PMID: 28341588) |
ARUP Laboratories, |
RCV001803145 | SCV002049283 | uncertain significance | Brugada syndrome 4 | 2020-10-04 | criteria provided, single submitter | clinical testing | The CACNB2 c.104T>C, p.Leu35Pro variant (also annotated as NM_201590.2(CACNB2):c.-200087T>C; rs373263114), has been previously observed in a family with primary electrical disease (arrhythmia without structural defects); however, it did not segregate with all effected family members (Proost 2017). This variant is also found in the general population with an overall allele frequency of 0.006% (15/248,332 alleles) in the Genome Aggregation Database and is listed in ClinVar (Variation ID: 191429). The leucine at codon 35 is weakly conserved (Alamut v.2.11) and computational analyses predict conflicting effects of this variant on protein structure/function. Based on the available information, the clinical significance of this variant is uncertain. References: Proost D et al. Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease. J Mol Diagn. 2017 May;19(3):445-459. |
Fulgent Genetics, |
RCV001803145 | SCV002780070 | uncertain significance | Brugada syndrome 4 | 2021-09-23 | criteria provided, single submitter | clinical testing |