T3N (p.Thr3Asn) variant of LMNA (Prelamin-A/C)
T3N (p.Thr3Asn) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2; Dilated cardiomyopathy 1A; Primary dilated c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T3N (p.Thr3Asn) variant details
- p.Thr3Asn
- rs1235021953
- ClinGen CA342805896
- ClinVar RCV001181741
- ClinVar RCV003769991
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; Dilated cardiomyopathy 1A; Primary dilated c
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 24.20
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; Dilated cardiomyopathy 1A; P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- 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)