Submissions for variant NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile)

gnomAD frequency: 0.00011  dbSNP: rs181957743

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192710	SCV000249269	uncertain significance	not specified	2015-04-17	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000192710	SCV000257867	uncertain significance	not specified	2015-07-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464720	SCV000555361	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-13	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000192710	SCV000711410	uncertain significance	not specified	2017-01-20	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The p.Val16457Ile v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been reported in ClinVar (Variation ID 212474). This variant has been identified in 0.14% (16/11350) of Latino chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs181957743). Computation al prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.Val16457Ile variant is uncertain, its frequency suggests that it is mo re likely to be benign.
GeneDx	RCV001697236	SCV000719435	likely benign	not provided	2021-02-23	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001697236	SCV003825870	uncertain significance	not provided	2020-09-23	criteria provided, single submitter	clinical testing