Submissions for variant NM_003664.5(AP3B1):c.339A>C (p.Ala113=)

gnomAD frequency: 0.01450  dbSNP: rs7706167

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219462	SCV000268793	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ala113Ala in exon 4 of AP3B1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 4.8% (213/4406) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs7706167).
PreventionGenetics, part of Exact Sciences	RCV000219462	SCV000309772	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000640590	SCV000458319	likely benign	Hermansky-Pudlak syndrome 2	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000640590	SCV000762184	benign	Hermansky-Pudlak syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001547611	SCV001767359	likely benign	not provided	2021-01-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262805	SCV002543012	benign	Autoinflammatory syndrome	2019-12-01	criteria provided, single submitter	clinical testing