ClinVar Miner

Submissions for variant NM_001261826.3(AP3D1):c.2143del (p.Val715fs)

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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 RCV003226712 SCV003922808 likely pathogenic Hermansky-Pudlak syndrome 2023-03-21 criteria provided, single submitter clinical testing Variant summary: AP3D1 c.2143delG (p.Val715PhefsX11) 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. Other loss-of-function variants have been reported in patients with Hermansky-Pudlak syndrome, detected based on whole exome sequencing (PMID: 30472485, 26744459). The variant was absent in 248740 control chromosomes. To our knowledge, no occurrence of c.2143delG in individuals affected with Hermansky-Pudlak Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have provided 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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