Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008528 | SCV001168300 | pathogenic | not provided | 2019-02-06 | criteria provided, single submitter | clinical testing | A pathogenic variant has been identified in the SPAST gene. The c.1454_1463del10 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1454_1463del10 variant causes a frameshift starting with codon Alanine 485, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 42 of the new reading frame, denoted p.Ala485GlyfsX42. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1454_1463del10 variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is considered to be a pathogenic variant, and its presence is consistent with spastic paraplegia type 4. |