ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.232C>T (p.Gln78Ter)

gnomAD frequency: 0.00001  dbSNP: rs201348482
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000023365 SCV000651479 pathogenic Hermansky-Pudlak syndrome 9 2023-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln78*) in the BLOC1S6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLOC1S6 are known to be pathogenic (PMID: 10610180, 21665000, 22461475). This variant is present in population databases (rs201348482, gnomAD 0.02%). This premature translational stop signal has been observed in individuals with Hermansky-Pudlak syndrome (PMID: 21665000, 22461475, 26575419). ClinVar contains an entry for this variant (Variation ID: 30412). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023365 SCV000044656 pathogenic Hermansky-Pudlak syndrome 9 2012-03-29 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000851271 SCV000993527 likely pathogenic Hermansky-Pudlak syndrome 2015-12-18 no assertion criteria provided research

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