ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1246-5T>C

dbSNP: rs727503707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152531 SCV000201723 uncertain significance not specified 2013-09-18 criteria provided, single submitter clinical testing The 1246-5T>C variant in TTN has not been reported in individuals with cardiomyo pathy or in large population studies. This variant is located in the 3' splice r egion. Computational tools do not suggest an impact to splicing, though this inf ormation is not predictive enough to rule out pathogenicity. Additional informat ion is needed to fully assess the clinical significance of this variant.
Ambry Genetics RCV002390333 SCV002670889 uncertain significance Cardiovascular phenotype 2020-06-09 criteria provided, single submitter clinical testing The c.1246-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 7 in the TTN gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003764936 SCV004582349 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-08-06 criteria provided, single submitter clinical testing

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