Submissions for variant NM_004817.4(TJP2):c.185C>T (p.Thr62Met)

gnomAD frequency: 0.00168  dbSNP: rs138241615

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152018	SCV000200588	likely benign	not specified	2013-06-25	criteria provided, single submitter	clinical testing	Thr39Met in Exon 4 of TJP2: This variant is not expected to have clinical signi ficance because it has been observed in 0.3% (24/8600) of European American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS; dbSNP rs138241615).
Eurofins Ntd Llc (ga)	RCV000662345	SCV000229054	uncertain significance	not provided	2017-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000662345	SCV001027267	benign	not provided	2023-12-10	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000662345	SCV001146186	benign	not provided	2019-02-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000662345	SCV001747591	likely benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000662345	SCV001818482	uncertain significance	not provided	2021-03-01	criteria provided, single submitter	clinical testing	Identified in unrelated patients with intrahepatic cholestasis of pregnancy in published literature (Dixon et al., 2017; Vitale et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33390354, 31450555, 32089630, 29238877, 28924228)
Laboratory of Prof. Karen Avraham, Tel Aviv University	RCV004584614	SCV005073809	likely pathogenic	Autosomal dominant nonsyndromic hearing loss 51	2024-06-10	criteria provided, single submitter	research	A very rare variant predicted deleterious by most prediction programs. The type of HL is characteristic for this gene. Classified as likely pathogenic by Deafness Variation Database based on PMID: 29238877
GenomeConnect, ClinGen	RCV000662345	SCV000784712	not provided	not provided		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Elsea Laboratory, Baylor College of Medicine	RCV001250045	SCV001424180	likely pathogenic	Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4	2020-04-01	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935276	SCV004755486	likely benign	TJP2-related disorder	2022-02-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).