ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.1234C>T (p.Gln412Ter)

gnomAD frequency: 0.00001  dbSNP: rs281865112
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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 RCV002513200 SCV003439659 pathogenic not provided 2023-03-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the HPS6 protein in which other variant(s) (p.Gln680*) have been determined to be pathogenic (PMID: 27225848). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 30677). This premature translational stop signal has been observed in individual(s) with Hermansky-Pudlak syndrome (PMID: 19843503). This variant is present in population databases (rs281865112, gnomAD 0.0008%). This sequence change creates a premature translational stop signal (p.Gln412*) in the HPS6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 364 amino acid(s) of the HPS6 protein.
OMIM RCV000023654 SCV000044945 pathogenic Hermansky-Pudlak syndrome 6 2009-12-01 no assertion criteria provided literature only

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