ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.200C>G (p.Ser67Ter)

dbSNP: rs772475341
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001027539 SCV001162834 likely pathogenic Hermansky-Pudlak syndrome 9 2020-02-20 criteria provided, single submitter clinical testing Patient is having oculocutaneous albinism and severe defect of platelets dense bodies highly suggesting of Hermansky-Pudlak Syndrome. Variant in trans of another variant classified Likely Pathogenic upon ACMG classification. Each parent has one variant.
Invitae RCV001027539 SCV002965327 pathogenic Hermansky-Pudlak syndrome 9 2023-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser67*) 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 (rs772475341, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 32245340). ClinVar contains an entry for this variant (Variation ID: 827680). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001027539 SCV005184310 pathogenic Hermansky-Pudlak syndrome 9 2024-08-06 no assertion criteria provided literature only

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