ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.673_686del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003469839 SCV004192358 likely pathogenic Hermansky-Pudlak syndrome 4 2023-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005100174 SCV005797108 pathogenic not provided 2024-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu225Glyfs*28) in the HPS4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HPS4 are known to be pathogenic (PMID: 12664304). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HPS4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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