ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.33_34del (p.Ala12fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003641650 SCV004427844 pathogenic Hermansky-Pudlak syndrome 9 2023-05-28 criteria provided, single submitter clinical testing This variant is present in population databases (rs749555560, gnomAD 0.03%). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BLOC1S6-related conditions. This sequence change creates a premature translational stop signal (p.Ala12Profs*19) 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).

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