A278T (p.Ala278Thr) variant of LMNA (Prelamin-A/C)
A278T (p.Ala278Thr) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of LMNA-related disorder; Charcot-Marie-Tooth disease type 2; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A278T (p.Ala278Thr) variant details
- p.Ala278Thr
- rs1553265433
- ClinGen CA342817512
- ClinVar RCV001289083
- ClinVar RCV001863151
- Conflicting interpretations
- LMNA-related disorder; Charcot-Marie-Tooth disease type 2; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.78
- ESM-1b 0.75
- AlphaMissense 0.66
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (LMNA-related disorder; Charcot-Marie-Tooth disease type 2; Cardi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)