ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4646-5T>A

dbSNP: rs750400475
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528558 SCV000643219 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-07-10 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 467177). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is located in the Z band of TTN (PMID: 25589632). Variants in this region may be clinically relevant, but have not been definitively shown to cause cardiomyopathy or neuromuscular disease (PMID: 27493940, 32778822). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change falls in intron 26 of the TTN gene. It does not directly change the encoded amino acid sequence of the TTN protein.
Ambry Genetics RCV003362838 SCV004053293 uncertain significance Cardiovascular phenotype 2023-08-16 criteria provided, single submitter clinical testing The c.4508-5T>A intronic variant results from a T to A substitution 5 nucleotides upstream from coding exon 25 in the TTN gene. This nucleotide position is highly 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.

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