Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670967 | SCV000795898 | likely pathogenic | Hereditary spastic paraplegia 15 | 2017-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532105 | SCV003452077 | pathogenic | Spastic paraplegia | 2022-02-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp1906Metfs*36) in the ZFYVE26 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZFYVE26 are known to be pathogenic (PMID: 18394578, 19805727). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 555194). This variant has not been reported in the literature in individuals affected with ZFYVE26-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). |