Submissions for variant NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu)

gnomAD frequency: 0.00012  dbSNP: rs769636686

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219208	SCV000272501	uncertain significance	not specified	2015-06-08	criteria provided, single submitter	clinical testing	The p.Pro955Leu variant in TJP2 has not been previously reported in individuals with hearing loss, but has been identified in 2/6058 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computation al prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of th e p.Pro955Leu variant is uncertain.
Eurofins Ntd Llc (ga)	RCV000734093	SCV000862205	uncertain significance	not provided	2018-06-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003919884	SCV004730089	uncertain significance	TJP2-related condition	2024-01-01	criteria provided, single submitter	clinical testing	The TJP2 c.2864C>T variant is predicted to result in the amino acid substitution p.Pro955Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.031% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.