ClinVar Miner

Submissions for variant NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter)

gnomAD frequency: 0.00001  dbSNP: rs104893945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000003601 SCV000594407 pathogenic Hermansky-Pudlak syndrome 7 2017-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512713 SCV003439399 pathogenic not provided 2024-07-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln103*) in the DTNBP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DTNBP1 are known to be pathogenic (PMID: 12923531, 23364359). This variant is present in population databases (rs104893945, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 12923531, 30990103). ClinVar contains an entry for this variant (Variation ID: 3432). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003601 SCV000023759 pathogenic Hermansky-Pudlak syndrome 7 2003-09-01 no assertion criteria provided literature only

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