ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr)

gnomAD frequency: 0.00054  dbSNP: rs17109853
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731072 SCV000858843 uncertain significance not provided 2017-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000731072 SCV001611077 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825464 SCV002083711 likely benign Hermansky-Pudlak syndrome 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004731026 SCV005336071 likely benign HPS1-related disorder 2024-04-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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