rs137854219
- Pathogenic
- Uncertain significance
Your Genotype
Sign InDescription
The W1740X nonsense variant in the TSC2 gene has been reported previously in association with tuberous sclerosis complex (TSC) (TSC2 LOVD). Additionally, a different nucleotide substitution, c.5220 G>A, resulting in the same nonsense variant has also been reported in association with TSC (Roberts et al., 2002). The W1740X variant is predicted to cause loss of normal protein function through protein truncation as the last 68 amino acids of the tuberin protein are lost. Therefore, the presence of W1740X is consistent with a diagnosis of TSC
Reference Allele
G
Alternative Allele
A
C
Chromosome
16
Location
2088285
Variant Type
SNP
ClinVar
Name
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter)
Allele
A
Clinical Significance
Pathogenic
Name
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser)
Allele
C
Clinical Significance
Uncertain significance