ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.1513C>T (p.Gln505Ter)

gnomAD frequency: 0.00001  dbSNP: rs753804000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003062297 SCV003439660 pathogenic not provided 2022-05-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln505*) in the HPS6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 271 amino acid(s) of the HPS6 protein. This variant is present in population databases (rs753804000, gnomAD 0.005%). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 27593200, 30387913). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225774 SCV003807852 likely pathogenic Hermansky-Pudlak syndrome 6 2022-10-14 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderated, PM3 moderated

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