Submissions for variant NM_001267550.2(TTN):c.204C>T (p.Pro68=)

gnomAD frequency: 0.00012  dbSNP: rs201089861

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000244651	SCV000318895	likely benign	Cardiovascular phenotype	2013-10-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Genetic Services Laboratory, University of Chicago	RCV000500853	SCV000597679	uncertain significance	not specified	2016-09-23	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000500853	SCV000712584	likely benign	not specified	2016-10-25	criteria provided, single submitter	clinical testing	p.Pro68Pro in exon 3 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 6/66698 of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs201089861).
Eurofins Ntd Llc (ga)	RCV000732241	SCV000860165	uncertain significance	not provided	2018-03-09	criteria provided, single submitter	clinical testing
Invitae	RCV001080260	SCV001009105	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000732241	SCV001153214	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
GeneDx	RCV000732241	SCV001866397	likely benign	not provided	2020-07-08	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000732241	SCV003819833	uncertain significance	not provided	2019-08-14	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486795	SCV004239852	likely benign	Cardiomyopathy	2023-03-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920011	SCV004733771	likely benign	TTN-related condition	2019-10-21	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).