Submissions for variant NM_001267550.2(TTN):c.1399-3C>T

gnomAD frequency: 0.00012  dbSNP: rs397517486

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039900	SCV000063591	uncertain significance	not specified	2012-08-14	criteria provided, single submitter	clinical testing	The 1399-3C>T variant in TTN has not been reported in the literature nor previou sly identified by our laboratory. This variant is located in the 3' splice regio n. Computational tools do not suggest an impact to splicing, though this informa tion is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of this variant.
GeneDx	RCV001092344	SCV000236636	likely benign	not provided	2021-01-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000461970	SCV000542778	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-12-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390168	SCV002697694	uncertain significance	Cardiovascular phenotype	2021-06-14	criteria provided, single submitter	clinical testing	The c.1399-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 8 in the TTN gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.