ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.395G>C (p.Arg132Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics, Clalit Research Institute, Clalit Health Care RCV004577697 SCV005061569 likely pathogenic Hermansky-Pudlak syndrome 2 2024-06-14 criteria provided, single submitter clinical testing equency: The variant is absent from the gnomAD reference population dataset. Phenotype: The patient's phenotype or family history is highly specific for a disease with a single genetic etiology Prediction tools: REVEL predicts a deleterious effect on the gene or gene product (score 0.88). Clinical evidence: To date, the variant has not been described by reputable sources or in the primary literature. (pm2_support, pp3_modarate, pm3_support, pp4_strong)

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