Submissions for variant NM_001267550.2(TTN):c.2607T>C (p.Thr869=)

dbSNP: rs143969192

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216515	SCV000271002	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Thr869Thr in Exon 16 of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 1/3738 African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs143969192).
Invitae	RCV001502196	SCV001707021	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-12-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000216515	SCV002104045	likely benign	not specified	2022-02-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453765	SCV002736206	likely benign	Cardiovascular phenotype	2022-08-30	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.
Clinical Genetics, Academic Medical Center	RCV000216515	SCV001920805	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727640	SCV001970500	likely benign	not provided		no assertion criteria provided	clinical testing