ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.261dup (p.Glu88fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002663436 SCV002982837 pathogenic Hermansky-Pudlak syndrome 9 2021-05-01 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu88Argfs*6) 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 has not been reported in the literature in individuals with BLOC1S6-related conditions. For these reasons, this variant has been classified as Pathogenic.

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