ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.924C>T (p.Gly308=)

gnomAD frequency: 0.00003  dbSNP: rs747955942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001278949 SCV001465995 uncertain significance Hermansky-Pudlak syndrome 2020-04-10 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003908491 SCV004732830 uncertain significance HPS1-related disorder 2023-11-18 no assertion criteria provided clinical testing The HPS1 c.806C>T variant is predicted to result in the amino acid substitution p.Ala269Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0085% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-100189343-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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