ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.472C>T (p.Arg158Cys)

gnomAD frequency: 0.00001  dbSNP: rs727505003
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156424 SCV000206142 uncertain significance not specified 2014-03-14 criteria provided, single submitter clinical testing The Arg158Cys variant in HPS1 has not been reported in individuals with pulmonar y disease and data from large population studies is insufficient to assess the f requency of this variant. Computational prediction tools and conservation analys es suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, additional info rmation is needed to fully assess the clinical significance of the Arg158Cys var iant.
Natera, Inc. RCV001831976 SCV002089226 uncertain significance Hermansky-Pudlak syndrome 2021-05-10 no assertion criteria provided clinical testing

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