ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2890T>C (p.Leu964=)

gnomAD frequency: 0.00001  dbSNP: rs750377910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767894 SCV000898524 uncertain significance Hermansky-Pudlak syndrome 2 2021-03-30 criteria provided, single submitter clinical testing AP3B1 NM_003664 exon 24 p.Leu964Leu (c.2890T>C): This variant has not been reported in the literature but is present in 4/17240 East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs750377910). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000767894 SCV003450813 likely benign Hermansky-Pudlak syndrome 2 2023-12-07 criteria provided, single submitter clinical testing

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