Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665612 | SCV000789762 | likely pathogenic | Hereditary spastic paraplegia 15 | 2017-02-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000823096 | SCV000963940 | pathogenic | Spastic paraplegia | 2022-12-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550774). This premature translational stop signal has been observed in individuals with spastic paraplegia (PMID: 27544497; Invitae). This variant is present in population databases (rs558285072, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Arg1602*) 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). |
DASA | RCV001730704 | SCV001980675 | pathogenic | Atypical behavior; Intellectual disability; Spastic paraplegia | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal c.4804C>T;p.(Arg1602*) in the ZFYVE26 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs558285072, gnomAD 0.002%; ABraOM no frequency - abraom.ib.usp.br). This variant has been observed in individuals affected with spastic paraplegia (PMID: 27544497, Invitae). ClinVar contains an entry for this variant (Variation ID: 550774). Loss-of-function variants in ZFYVE26 are known to be pathogenic (PMID: 18394578, 19805727). For these reasons, this variant has been classified as Pathogenic. |