Submissions for variant NM_001267550.2(TTN):c.4262G>A (p.Arg1421Gln)

gnomAD frequency: 0.00027  dbSNP: rs147254212

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704943	SCV000237992	likely benign	not provided	2019-03-26	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219663	SCV000272667	uncertain significance	not specified	2015-09-24	criteria provided, single submitter	clinical testing	The p.Arg1421Gln variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/66104 Finnish chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1 47254212). Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Arg1421Gln variant is uncertain.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001170658	SCV001333252	likely benign	Cardiomyopathy	2021-07-26	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001704943	SCV004225936	uncertain significance	not provided	2022-10-25	criteria provided, single submitter	clinical testing	BP4