Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000799915 | SCV000939603 | pathogenic | not provided | 2022-10-20 | 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: 5282). This premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 10971344). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Thr322Hisfs*131) in the HPS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HPS1 are known to be pathogenic (PMID: 12442288, 16185271). |
| Baylor Genetics | RCV000005600 | SCV004199980 | pathogenic | Hermansky-Pudlak syndrome 1 | 2022-02-03 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000005600 | SCV000025782 | pathogenic | Hermansky-Pudlak syndrome 1 | 2000-09-01 | no assertion criteria provided | literature only |