Submissions for variant NM_004817.4(TJP2):c.395C>G (p.Pro132Arg)

dbSNP: rs141496493

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000342641	SCV000340244	uncertain significance	not provided	2016-03-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000342641	SCV001130162	likely benign	not provided	2024-10-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000342641	SCV001766365	likely benign	not provided	2020-07-23	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV003165722	SCV003878880	uncertain significance	Inborn genetic diseases	2023-02-28	criteria provided, single submitter	clinical testing	The c.395C>G (p.P132R) alteration is located in exon 5 (coding exon 5) of the TJP2 gene. This alteration results from a C to G substitution at nucleotide position 395, causing the proline (P) at amino acid position 132 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003977732	SCV004787535	likely benign	TJP2-related disorder	2022-02-11	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).