Submissions for variant NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile)

gnomAD frequency: 0.00508  dbSNP: rs146624866

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000504498	SCV000593217	likely benign	not specified	2017-03-27	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000504498	SCV000966253	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Thr862Ile in exon 23 of AP3B1: This variant is not expected to have clinical sig nificance because it has been identified in 1.6% (69/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs146624866).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000946850	SCV001093004	benign	Hermansky-Pudlak syndrome 2	2025-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000946850	SCV001314355	benign	Hermansky-Pudlak syndrome 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263706	SCV002542856	likely benign	Autoinflammatory syndrome	2021-06-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004705623	SCV005222096	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003902758	SCV004722014	benign	AP3B1-related disorder	2019-03-01	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).