Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000799915 | SCV000939603 | pathogenic | not provided | 2022-10-20 | criteria provided, single submitter | clinical testing | 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). 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 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. ClinVar contains an entry for this variant (Variation ID: 5282). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV000005600 | SCV004199980 | pathogenic | Hermansky-Pudlak syndrome 1 | 2024-03-30 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000005600 | SCV005661905 | pathogenic | Hermansky-Pudlak syndrome 1 | 2024-06-15 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000005600 | SCV000025782 | pathogenic | Hermansky-Pudlak syndrome 1 | 2000-09-01 | no assertion criteria provided | literature only |