In ClinVar, an in-frame deletion variant at the same location as the variant in Case 1, NM_001003800.2 (BICD2):c.2200_2202del (p.Lys734del) (Variation ID: 982816), is registered as likely pathogenic and causes childhood-onset proximal spinal muscular atrophy with contractures. This evidence concerns the gene BICD2 and proximal spinal muscular atrophy.