Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000627124 | SCV000747927 | likely pathogenic | Primary familial dilated cardiomyopathy | 2017-06-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433553 | SCV002749331 | likely pathogenic | Cardiovascular phenotype | 2022-04-14 | criteria provided, single submitter | clinical testing | The p.L92F variant (also known as c.274C>T), located in coding exon 1 of the LMNA gene, results from a C to T substitution at nucleotide position 274. The leucine at codon 92 is replaced by phenylalanine, an amino acid with highly similar properties. This variant has been detected in individuals with dilated cardiomyopathy, cardiac arrhythmia, and cardiac conduction system disease (Marschall C et al. Cardiovasc Diagn Ther, 2019 Oct;9:S292-S298; Chami N et al. Can J Cardiol, 2014 Dec;30:1655-61; Millat G et al. Eur J Med Genet Aug;54:e570-5). In addition, this variant has also been detected in an individual with lipodystrophy and cardiac dysrhythmia. Studies of cultured fibroblasts from this individual demonstrated altered nuclei and reduced proliferative activity (Caron M et al. Cell Death Differ, 2007 Oct;14:1759-67; Decaudain A et al. J Clin Endocrinol Metab, 2007 Dec;92:4835-44; Vouillarmet J et al. Can J Diabetes, 2016 Oct;40:376-378l). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |
Epithelial Biology; Institute of Medical Biology, |
RCV000057384 | SCV000088497 | not provided | not provided | no assertion provided | not provided |