ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.478C>T (p.Arg160Trp)

gnomAD frequency: 0.00290  dbSNP: rs142893758
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195168 SCV000247569 likely benign not specified 2015-05-15 criteria provided, single submitter clinical testing
Invitae RCV000888707 SCV001032358 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106365 SCV001263426 benign Hermansky-Pudlak syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000888707 SCV001794271 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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