Submissions for variant NM_001267550.2(TTN):c.35037G>A (p.Pro11679=)

gnomAD frequency: 0.00011  dbSNP: rs369095270

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040182	SCV000063873	likely benign	not specified	2017-02-06	criteria provided, single submitter	clinical testing	p.Pro10378Pro in exon 150 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and it is not locat ed within the splice consensus sequence. It has been identified in 0.1% (12/1263 6) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org; dbSNP rs369095270).
Eurofins Ntd Llc (ga)	RCV000725450	SCV000337037	uncertain significance	not provided	2015-12-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000040182	SCV000515425	likely benign	not specified	2017-06-06	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	RCV001087182	SCV000555669	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-28	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769037	SCV000900410	likely benign	Cardiomyopathy	2022-11-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725450	SCV004183825	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7