Submissions for variant NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile)

gnomAD frequency: 0.00009  dbSNP: rs753966916

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215758	SCV000272792	uncertain significance	not specified	2015-10-22	criteria provided, single submitter	clinical testing	The p.Thr27218Ile variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 2/11550 Latino chromosomes and 1 /9790 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org). Computational prediction tools and conservation analysis d o not provide strong support for or against an impact to the protein. In summary , the clinical significance of the p.Thr27218Ile variant is uncertain.
Athena Diagnostics Inc	RCV000215758	SCV000616169	uncertain significance	not specified	2017-05-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001589138	SCV001816519	likely benign	not provided	2019-11-14	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001589138	SCV003822210	uncertain significance	not provided	2023-12-21	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001589138	SCV001979112	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001589138	SCV001979825	uncertain significance	not provided		no assertion criteria provided	clinical testing