R219C (p.Arg219Cys) variant of SCN5A (Nav1.5)
R219C (p.Arg219Cys) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Brugada syndrome 1; Dilated cardiomyopathy 1E; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R219C (p.Arg219Cys) variant details
- p.Arg219Cys
- rs762012668
- ClinGen CA065472
- NCI-TCGA Cosmic COSV6111
- cosmic curated COSV61116
- Conflicting interpretations
- Brugada syndrome 1; Dilated cardiomyopathy 1E; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.02
- CADD 32.00
- ClinVar: Conflicting classifications of pathogenicity (Brugada syndrome 1; Dilated cardiomyopathy 1E; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)