ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2463dup (p.Arg822fs)

dbSNP: rs1576695913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge 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

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