ClinVar Miner

Submissions for variant NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter) (rs201348482)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000023365 SCV000651479 pathogenic Hermansky-Pudlak syndrome 9 2019-08-29 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. This variant is present in population databases (rs201348482, ExAC 0.02%). Loss-of-function variants in BLOC1S6 are known to be pathogenic. This variant has been reported as homozygous in individuals affected with Hermansky-Pudlak syndrome (PMID: 21665000, 26575419, 22461475). ClinVar contains an entry for this variant (Variation ID: 30412). An experimental study in patient fibroblasts has shown that although BLOC1S6 mRNA expression was equivalent to that seen in control fibroblasts, the pallidin protein was absent, indicating an unstable protein in patient fibroblasts (PMID: 21665000). 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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