ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2016T>C (p.Ala672=)

gnomAD frequency: 0.23948  dbSNP: rs42360
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Total submissions: 8
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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 RCV000150162 SCV000197055 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala672Ala in exon 18 of AP3B1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 25.8% (1135/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs42360).
PreventionGenetics, part of Exact Sciences RCV000150162 SCV000309770 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000363077 SCV000458293 benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520309 SCV001729373 benign Hermansky-Pudlak syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001689692 SCV001907165 benign not provided 2018-11-27 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000150162 SCV004102209 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 46% of patients studied by a panel of primary immunodeficiencies. Number of patients: 44. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001689692 SCV005302266 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV001689692 SCV002074576 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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