ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.1030G>T (p.Glu344Ter)

dbSNP: rs2067971306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology RCV001580271 SCV001809937 pathogenic Hermansky-Pudlak syndrome 6 criteria provided, single submitter clinical testing PVS1, PM2, PM3_supporting
Invitae RCV003669242 SCV004385565 pathogenic not provided 2023-03-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HPS6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu344*) in the HPS6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 432 amino acid(s) of the HPS6 protein. ClinVar contains an entry for this variant (Variation ID: 1210214). 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, 29054114, 31141302). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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