ClinVar Miner

Submissions for variant NM_001261826.3(AP3D1):c.3233A>G (p.Lys1078Arg)

gnomAD frequency: 0.00091  dbSNP: rs201804540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001421577 SCV001624104 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002070269 SCV002495799 uncertain significance Hermansky-Pudlak syndrome 10 2022-02-01 criteria provided, single submitter clinical testing AP3D1 NM_001261826.1 exon 28 p.Lys1078Arg (c.3233A>G): This variant has not been reported in the literature but is present in 0.7% (225/30600) of South Asian alleles including 7 homozygotes in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/19-2110166-T-C?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:1099332). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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