T528M (p.Thr528Met) variant of LMNA (Prelamin-A/C)
T528M (p.Thr528Met) 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 Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
T528M (p.Thr528Met) variant details
- p.Thr528Met
- rs57629361
- ClinGen CA017516
- ClinVar RCV000057330
- ClinVar RCV001182566
- Conflicting interpretations
- Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- CADD 27.60
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; no)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- 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)