Submissions for variant NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln)

dbSNP: rs104894311

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000013248	SCV000249168	pathogenic	Distal arthrogryposis type 2B1	2015-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000128667	SCV000322045	pathogenic	not provided	2021-03-30	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (Lek et al., 2016); Published functional studies demonstrate a damaging effect as R174Q results in increased calcium sensitivity (Robinson et al., 2007); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 12592607, 17194691, 23850728, 23401156, 30630514)
Baylor Genetics	RCV000013248	SCV001521179	pathogenic	Distal arthrogryposis type 2B1	2020-03-05	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 disease-causing [PMID: 23401156, 12592607, ClinVar ID: 12435]
Centogene AG - the Rare Disease Company	RCV000013248	SCV002059510	pathogenic	Distal arthrogryposis type 2B1	2019-01-23	criteria provided, single submitter	clinical testing
OMIM	RCV000013248	SCV000033495	pathogenic	Distal arthrogryposis type 2B1	2003-03-01	no assertion criteria provided	literature only
TNNI2 homepage - Leiden Muscular Dystrophy pages	RCV000128667	SCV000172307	not provided	not provided		no assertion provided	not provided