Submissions for variant NM_001267550.2(TTN):c.64338T>C (p.Ala21446=)

gnomAD frequency: 0.00002  dbSNP: rs371514555

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724605	SCV000228295	uncertain significance	not provided	2015-02-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000724605	SCV000236776	likely benign	not provided	2018-08-02	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213072	SCV000271056	likely benign	not specified	2015-03-12	criteria provided, single submitter	clinical testing	p.Ala18878Ala in exon 257 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 4/8526 East Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs371514555).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081517	SCV000286779	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000622146	SCV000736965	likely benign	Cardiovascular phenotype	2017-12-11	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769976	SCV000901402	benign	Cardiomyopathy	2017-10-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000213072	SCV004038458	likely benign	not specified	2023-08-08	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000213072	SCV001917115	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000213072	SCV001951529	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724605	SCV001974495	likely benign	not provided		no assertion criteria provided	clinical testing