W102* (p.Trp102Ter) variant of SMN1 (Survival motor neuron protein)

Name: SMN1 W102* (p.Trp102Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

W102* (p.Trp102Ter) in SMN1 (Survival motor neuron protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.

W102* (p.Trp102Ter) variant details

p.Trp102Ter
rs77804083
ClinGen CA254685
ClinVar RCV000009746
ClinVar RCV000009747
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Cited in: Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA… (PMID 11313744)
Cited in: Consensus statement for standard of care in spinal muscular atrophy. (PMID 17761659)