ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46304+3A>G

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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 RCV002410528 SCV002717938 uncertain significance Cardiovascular phenotype 2021-09-02 criteria provided, single submitter clinical testing The c.19109+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 75 in the TTN gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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