Submissions for variant NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)

gnomAD frequency: 0.00134  dbSNP: rs371802557

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040511	SCV000064202	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Ala19666Ala in exon 265 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/6694 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Ala19666Ala in exon 265 of TTN (allele fre quency = 1/6694) **
Eurofins Ntd Llc (ga)	RCV000040511	SCV000228411	benign	not specified	2015-04-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000299974	SCV000422179	uncertain significance	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000338417	SCV000422180	uncertain significance	Early-onset myopathy with fatal cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000404862	SCV000422181	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000303421	SCV000422182	uncertain significance	Tibial muscular dystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000360455	SCV000422183	uncertain significance	Hypertrophic cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000268502	SCV000422184	uncertain significance	Myopathy, myofibrillar, 9, with early respiratory failure	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000040511	SCV000515161	benign	not specified	2016-12-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000465995	SCV000555358	benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-11-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003389730	SCV002063951	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Ambry Genetics	RCV002371843	SCV002624434	benign	Cardiovascular phenotype	2018-09-24	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149654	SCV003838575	benign	Cardiomyopathy	2021-07-16	criteria provided, single submitter	clinical testing