ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43213+4T>C

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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 RCV002398699 SCV002706377 uncertain significance Cardiovascular phenotype 2021-09-27 criteria provided, single submitter clinical testing The c.16018+4T>C intronic variant results from a T to C substitution 4 nucleotides after coding exon 61 in the TTN gene. This nucleotide position is poorly 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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