ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.198G>A (p.Ser66=) (rs115265574)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592415 SCV000709335 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000758238 SCV000886876 uncertain significance Hermansky-Pudlak syndrome 1 2019-01-25 criteria provided, single submitter clinical testing This HPS1 variant (rs115265574) has been identified in large population datasets and the minor allele frequency is neither low enough to consider the variant rare (>0.1%) nor high enough to consider it a population polymorphism (>1%) within the African subpopulation (gnomAD: 84/24958 alleles; 0.34%, no homozygotes). A single submitter in ClinVar classifies this variant as uncertain clinical significance (Variation ID: 502551). This variant has not been reported in the literature, to our knowledge. Bioinformatic analysis predicts that this synonymous variant would not affect normal exon 4 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence that this variant is deleterious, the clinical significance of c.198G>A is uncertain at this time.
Invitae RCV000592415 SCV001047014 benign not provided 2018-12-24 criteria provided, single submitter clinical testing

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