ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3524-3T>C

gnomAD frequency: 0.00001  dbSNP: rs762717963
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696770 SCV000533782 likely benign not provided 2018-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451044 SCV002618233 uncertain significance Cardiovascular phenotype 2021-07-13 criteria provided, single submitter clinical testing The c.3386-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 20 in the TTN gene. This nucleotide position is well 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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