Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668831 | SCV000793497 | likely pathogenic | Hereditary spastic paraplegia 15 | 2017-08-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003588664 | SCV004297110 | pathogenic | Spastic paraplegia | 2023-03-27 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 553395). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia with thin corpus callosum (PMID: 19805727). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg728*) 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. |