Submissions for variant NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)

gnomAD frequency: 0.00020  dbSNP: rs202149931

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172246	SCV000054927	uncertain significance	not provided	2013-06-24	criteria provided, single submitter	research
Invitae	RCV000545122	SCV000643733	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-11-17	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000172246	SCV000701247	uncertain significance	not provided	2017-08-07	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000172246	SCV000844767	uncertain significance	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345594	SCV002647038	likely benign	Cardiovascular phenotype	2019-06-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002500449	SCV002812898	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-09-07	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000172246	SCV003824253	uncertain significance	not provided	2020-10-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000172246	SCV000237601	not provided	not provided	2014-09-10	no assertion provided	clinical testing	Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s).
Clinical Genetics, Academic Medical Center	RCV000172246	SCV001925102	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000172246	SCV001969831	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000172246	SCV001978375	uncertain significance	not provided		no assertion criteria provided	clinical testing