Submissions for variant NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp)

gnomAD frequency: 0.00004  dbSNP: rs190600127

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152388	SCV000201357	uncertain significance	not specified	2014-07-25	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The Arg8121Trp vari ant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/120 Columbian chromosomes by the 1000 Genomes Proje ct (dbSNP rs19060012). Arginine (Arg) at position 8121 is not conserved in mamma ls or evolutionarily distant species and 2 mammals (hedgehog and manatee) carry a tryptophan (Trp) at this position, the supporting that this change may be tole rated. In summary, while the clinical significance of the Arg8121Trp variant is uncertain, these data suggest that it is more likely to be benign.
Invitae	RCV000643023	SCV000764710	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-10-16	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769903	SCV000901329	uncertain significance	Cardiomyopathy	2015-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001804863	SCV002050560	likely benign	not provided	2021-02-16	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001804863	SCV003820143	uncertain significance	not provided	2020-02-21	criteria provided, single submitter	clinical testing