ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2805G>A (p.Trp935Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005035039 SCV005664943 pathogenic Hermansky-Pudlak syndrome 3 2024-04-07 criteria provided, single submitter clinical testing
GeneDx RCV005230823 SCV005874646 pathogenic not provided 2024-08-27 criteria provided, single submitter clinical testing Observed with a second HPS3 variant in unrelated patients with Hermansky-Pudlak syndrome in the published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in all cases (PMID: 27593200, 32725903); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31898847, 32725903, 27593200)

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