Submissions for variant NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)

gnomAD frequency: 0.00041  dbSNP: rs140757802

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001589274	SCV001824593	uncertain significance	not provided	2023-08-04	criteria provided, single submitter	clinical testing	Identified in individual with asphyxiating thoracic dystrophy; however, additional variants in other genes were also identified (Zhang et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29068549)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001854967	SCV002187230	likely benign	Jeune thoracic dystrophy; Nephronophthisis	2025-01-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004734898	SCV000314412	likely benign	TTC21B-related disorder	2024-09-23	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).
Dan Cohn Lab, University Of California Los Angeles	RCV000516123	SCV000612125	uncertain significance	Jeune thoracic dystrophy	2017-06-01	no assertion criteria provided	research
University of Washington Center for Mendelian Genomics, University of Washington	RCV000516123	SCV001479704	likely pathogenic	Jeune thoracic dystrophy		no assertion criteria provided	research