ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.913C>T (p.Gln305Ter)

dbSNP: rs281865110
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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 RCV001852026 SCV002240632 pathogenic not provided 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln305*) in the HPS6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 471 amino acid(s) of the HPS6 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 19843503; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 30673). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000023650 SCV000044941 pathogenic Hermansky-Pudlak syndrome 6 2009-12-01 no assertion criteria provided literature only

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