Submissions for variant NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu)

gnomAD frequency: 0.77489  dbSNP: rs2309428

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037067	SCV000060723	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Asp459Glu in Exon 10 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 34.3% (1284/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs2309428).
PreventionGenetics, part of Exact Sciences	RCV000037067	SCV000310667	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000037067	SCV000717041	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab	RCV001838538	SCV002098461	benign	Cholestasis, progressive familial intrahepatic, 4	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001838537	SCV002098462	benign	Hypercholanemia, familial 1	2021-09-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054636	SCV002404475	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002054636	SCV005266211	benign	not provided		criteria provided, single submitter	not provided