ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.2038C>T (p.Gln680Ter)

gnomAD frequency: 0.00001  dbSNP: rs1131692333
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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 RCV003558403 SCV004295698 pathogenic not provided 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln680*) in the HPS6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 96 amino acid(s) of the HPS6 protein. This variant is present in population databases (no rsID available, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with clinical features of HPS6-related conditions and/or Hermansky-Pudlak syndrome (PMID: 27225848, 29054114, 31141302). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 431051). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000496087 SCV000584197 pathogenic Hermansky-Pudlak syndrome 6 2017-07-28 no assertion criteria provided literature only

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