Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Taipei Veterans General Hospital, |
RCV000627025 | SCV000747121 | pathogenic | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 2018-04-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001860484 | SCV002156056 | pathogenic | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala182Profs*33) in the HTRA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HTRA1 are known to be pathogenic (PMID: 19387015, 29895533). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with cerebral vascular disease (PMID: 29895533). ClinVar contains an entry for this variant (Variation ID: 523574). For these reasons, this variant has been classified as Pathogenic. |