ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.370C>T (p.Arg124Ter)

gnomAD frequency: 0.00003  dbSNP: rs577034676
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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 RCV003774831 SCV004653463 pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1695385). This variant has not been reported in the literature in individuals affected with HPS5-related conditions. This variant is present in population databases (rs577034676, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg124*) in the HPS5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HPS5 are known to be pathogenic (PMID: 12548288, 15296495, 21833017, 26785811).
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002264887 SCV002546503 uncertain significance Hermansky-Pudlak syndrome 5 no assertion criteria provided research

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