G285R (p.Gly285Arg) variant of CLCN1 (Chloride channel protein 1)
G285R (p.Gly285Arg) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital myotonia, autosomal recessive form; not provided; Congenital myotonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G285R (p.Gly285Arg) variant details
- p.Gly285Arg
- rs1802528906
- ClinGen CA369687623
- ClinVar RCV003810401
- ClinVar RCV006437231
- Conflicting interpretations
- Congenital myotonia, autosomal recessive form; not provided; Congenital myotonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.94
- CADD 34.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital myotonia, autosomal recessive form; not provided; Con)
- EBI: Likely pathogenic (in MCAR)
- UniProt: Likely pathogenic (in MCAR)
- 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)