ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.2028del (p.Glu677fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002283419 SCV002572015 likely pathogenic Hermansky-Pudlak syndrome 2022-08-13 criteria provided, single submitter clinical testing Variant summary: HPS6 c.2028delC (p.Glu677SerfsX32), located in exon 1 of a single exon gene, results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. At-least one truncation downstream of this position has been reported in association with Hermansky-Pudlak syndrome 6 in the HGMD database. The variant was absent in 251030 control chromosomes. To our knowledge, no occurrence of c.2028delC in individuals affected with Hermansky-Pudlak Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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