Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV000851759 | SCV000899646 | pathogenic | Hermansky-Pudlak syndrome | 2019-02-01 | criteria provided, single submitter | research | |
Invitae | RCV003679019 | SCV004408202 | pathogenic | not provided | 2023-07-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu939Thrfs*4) in the HPS3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HPS3 are known to be pathogenic (PMID: 11590544). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HPS3-related conditions. ClinVar contains an entry for this variant (Variation ID: 627049). For these reasons, this variant has been classified as Pathogenic. |