Submissions for variant NM_004817.4(TJP2):c.2880+19C>T

gnomAD frequency: 0.00044  dbSNP: rs200384355

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152029	SCV000200606	likely benign	not specified	2015-03-25	criteria provided, single submitter	clinical testing	p.Arg967Trp in exon 19 in TJP2: This variant is not expected to have clinical s ignificance because it has been identified in 0.3% (4/1478) of Latino chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs200384355). In addition, the variant occurs in a region that is poorly cons erved across species and lies in an intron in several transcript isoforms of TJP 2. Furthermore, this variant has been identified by our laboratory in 1 individu al with hearing loss who was homozygous for a pathogenic variant in another gene that explained their disease, and therefore its co-occurence with another disea se-causing variant suggests an unlikely role for this variant in that individual 's hearing loss.
Eurofins Ntd Llc (ga)	RCV000726576	SCV000345644	uncertain significance	not provided	2018-06-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000726576	SCV002452531	benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing