Submissions for variant NM_001267550.2(TTN):c.50385T>C (p.Gly16795=)

gnomAD frequency: 0.00005  dbSNP: rs374672630

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040313	SCV000064004	likely benign	not specified	2012-01-10	criteria provided, single submitter	clinical testing	Gly14227Gly in exon 217 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. This variant has been identified in 2/6652 E uropean American chromosomes from a broad, though clinically unspecified populat ion (NHLBI Exome Sequencing Project; http://evs.gs.washington.edu/EVS). Gly1422 7Gly in exon 217 of TTN (NHLBI Exome Seq Project; 2/6652)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079702	SCV000286699	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000254431	SCV000318376	likely benign	Cardiovascular phenotype	2013-03-18	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.
GeneDx	RCV000040313	SCV000515140	benign	not specified	2015-09-22	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.
Eurofins Ntd Llc (ga)	RCV000727126	SCV000706004	uncertain significance	not provided	2017-01-30	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798155	SCV002042521	likely benign	Cardiomyopathy	2021-03-26	criteria provided, single submitter	clinical testing