Submissions for variant NM_001267550.2(TTN):c.54207A>G (p.Pro18069=)

gnomAD frequency: 0.00030  dbSNP: rs372686070

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152309	SCV000201184	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Pro15501Pro in Exon 230 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 1/3094 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS;).
Eurofins Ntd Llc (ga)	RCV000725193	SCV000334826	uncertain significance	not provided	2015-09-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000152309	SCV000730385	benign	not specified	2017-05-01	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.
Ambry Genetics	RCV000619968	SCV000736632	likely benign	Cardiovascular phenotype	2016-07-08	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.
Invitae	RCV001078725	SCV001003441	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-29	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798481	SCV002042541	likely benign	Cardiomyopathy	2020-09-11	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000152309	SCV001979025	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725193	SCV001980131	likely benign	not provided		no assertion criteria provided	clinical testing