Submissions for variant NM_001267550.2(TTN):c.1851A>C (p.Thr617=)

gnomAD frequency: 0.00002  dbSNP: rs727504530

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155680	SCV000205390	likely benign	not specified	2013-04-21	criteria provided, single submitter	clinical testing	Thr617Thr in exon 12 of TTN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n this splice consensus sequence. Thr617Thr in exon 12 of TTN (allele frequency = n/a)
Invitae	RCV002056099	SCV002345930	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2023-10-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003162635	SCV003883434	likely benign	Cardiovascular phenotype	2023-01-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center	RCV000155680	SCV001925918	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701534	SCV001927314	likely benign	not provided		no assertion criteria provided	clinical testing