G523D (p.Gly523Asp) variant of CLCN1 (Chloride channel protein 1)
G523D (p.Gly523Asp) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G523D (p.Gly523Asp) variant details
- p.Gly523Asp
- rs1460714146
- ClinGen CA369645930
- ClinVar RCV001091922
- ClinVar RCV001862702
- Pathogenic/Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.89
- CADD 29.10
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Myotonia Congenita. (PMID 20301529)