Submissions for variant NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)

dbSNP: rs104894312

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000415208	SCV000493003	pathogenic	Distal arthrogryposis; Calcaneovalgus deformity; Ulnar deviation of the wrist; Congenital finger flexion contractures	2014-03-06	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000013249	SCV000597509	pathogenic	Distal arthrogryposis type 2B1	2015-11-25	criteria provided, single submitter	clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital	RCV000128665	SCV001449715	pathogenic	not provided	2018-04-09	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000013249	SCV001521178	pathogenic	Distal arthrogryposis type 2B1	2019-09-06	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as pathogenic in multiple patients with type 2B distal arthrogryposis [PMID 12592607, 17101001, 17194691, ClinVar ID: 12436]
GeneDx	RCV000128665	SCV001792921	pathogenic	not provided	2022-09-23	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 18331830, 21402185, 17101001, 25340332, 16497570, 16802141, 23401156, 12592607, 17194691, 33726816, 33060286)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000013249	SCV002759358	pathogenic	Distal arthrogryposis type 2B1	2022-12-07	criteria provided, single submitter	clinical testing
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	RCV000013249	SCV003853397	pathogenic	Distal arthrogryposis type 2B1	2023-03-23	criteria provided, single submitter	clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV000013249	SCV004543814	pathogenic	Distal arthrogryposis type 2B1	2023-09-08	criteria provided, single submitter	clinical testing
OMIM	RCV000013249	SCV000033496	pathogenic	Distal arthrogryposis type 2B1	2006-12-01	no assertion criteria provided	literature only
TNNI2 homepage - Leiden Muscular Dystrophy pages	RCV000128665	SCV000172305	not provided	not provided		no assertion provided	not provided