ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41609-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004991093 SCV005521773 uncertain significance Cardiovascular phenotype 2024-08-01 criteria provided, single submitter clinical testing The c.14414-1G>A intronic variant results from a G to A substitution one nucleotide upstream from coding exon 54 of the TTN gene. Coding exon 54 is located in the I-band region of the N2-B isoform of the titin protein and is constitutively expressed in TTN transcripts (percent spliced in or PSI 100%). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. This alteration disrupts the canonical splice site and is expected to cause aberrant splicing. However, although direct evidence is unavailable, this alteration is predicted to result in an in-frame transcript that is not expected to trigger nonsense-mediated mRNA decay. The exact functional effect of the predicted splice impact is unknown. Based on the available evidence, the clinical significance of this variant remains unclear.

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