ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67637-1G>T

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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 RCV002321223 SCV002632326 uncertain significance Cardiovascular phenotype 2022-05-02 criteria provided, single submitter clinical testing The c.40442-1G>T intronic variant results from a G to T substitution one nucleotide upstream from coding exon 147 of the TTN gene. Exon 147 is located in the A-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 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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