ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu)

gnomAD frequency: 0.91917  dbSNP: rs6453373
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150163 SCV000197056 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val585Glu in exon 16 of AP3B1: This variant is not expected to have clinical sig nificance because it has been identified in 7.6% (655/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs6453373).
PreventionGenetics, part of Exact Sciences RCV000150163 SCV000309768 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324616 SCV000458298 benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000150163 SCV000803538 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >10% in Exome Aggregation Consortium.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511630 SCV001718905 benign Hermansky-Pudlak syndrome 2 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001511630 SCV001775253 benign Hermansky-Pudlak syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001682862 SCV001905255 benign not provided 2018-12-26 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000150163 SCV004102615 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 96. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001682862 SCV005302268 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000150163 SCV005886171 benign not specified 2025-02-09 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001682862 SCV002074575 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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