ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.155del (p.Val52fs)

dbSNP: rs1590262450
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851709 SCV000899527 pathogenic Hermansky-Pudlak syndrome 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003558571 SCV004295694 pathogenic not provided 2023-04-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val52Glufs*6) in the HPS6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 724 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 HPS6-related conditions (PMID: 27593200, 31064749). 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: 627011). This variant disrupts a region of the HPS6 protein in which other variant(s) (p.Arg667*) have been determined to be pathogenic (PMID: 33878481; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005029419 SCV005662987 likely pathogenic Hermansky-Pudlak syndrome 6 2024-06-14 criteria provided, single submitter clinical testing

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