Submissions for variant NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met)

gnomAD frequency: 0.00003  dbSNP: rs727504540

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155693	SCV000205403	uncertain significance	not specified	2013-05-01	criteria provided, single submitter	clinical testing	The Ile33041Met variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational analyses (biochemical amin o acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. At this time, additional information is needed to fully assess the clinical significance of this variant .
Invitae	RCV001087390	SCV000555128	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2024-01-23	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726637	SCV000701884	uncertain significance	not provided	2018-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000726637	SCV001815244	likely benign	not provided	2019-11-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965165	SCV004790552	likely benign	TTN-related condition	2023-02-14	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).