ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu)

dbSNP: rs748106098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001827160 SCV002097127 uncertain significance Hermansky-Pudlak syndrome 2021-11-29 criteria provided, single submitter curation The p.Phe544Leu variant in HPS1 has been reported in 1 individual, in the homozygous state, with Hermansky-Pudlak syndrome (PMID: 32581362) and has been identified in 0.0009% (1/113736) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs748106098). Although this variant has been seen in the general population in a heterozygous state, its frequency is low enough to be consistent with a recessive carrier frequency. This variant has also been reported in ClinVar (Variation ID#: 812729) and has been interpreted as likely pathogenic by NIHR Bioresource Rare Diseases (University of Cambridge). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Phe544Leu variant is uncertain. ACMG/AMP Criteria applied: PM3_supporting, PM2_supporting (Richards 2015).
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003523 SCV001161832 likely pathogenic Hermansky-Pudlak syndrome 1 no assertion criteria provided research

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