Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV000852087 | SCV000899628 | likely pathogenic | Hermansky-Pudlak syndrome | 2019-02-01 | criteria provided, single submitter | research | |
Invitae | RCV002536613 | SCV002998942 | pathogenic | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg822Alafs*11) 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 premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 31064749). ClinVar contains an entry for this variant (Variation ID: 627283). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003465686 | SCV004199999 | pathogenic | Hermansky-Pudlak syndrome 3 | 2023-09-21 | criteria provided, single submitter | clinical testing |