ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro)

gnomAD frequency: 0.00015  dbSNP: rs373263114
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171621 SCV000055191 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx 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, Molecular Genetics and Genomics, 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, Fulgent Genetics RCV001803145 SCV002780070 uncertain significance Brugada syndrome 4 2021-09-23 criteria provided, single submitter clinical testing

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