ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2343_2344del (p.Phe781fs)

dbSNP: rs868868714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001997487 SCV002230220 pathogenic not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe781Leufs*31) 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 variant has not been reported in the literature in individuals affected with HPS3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1449318). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471106 SCV004199996 likely pathogenic Hermansky-Pudlak syndrome 3 2023-10-04 criteria provided, single submitter clinical testing

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