ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.549+4_549+7del

dbSNP: rs2515498193
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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 RCV002351546 SCV002654362 uncertain significance Cardiovascular phenotype 2021-11-16 criteria provided, single submitter clinical testing The c.549+4_549+7delAGTG intronic variant, located in intron 7 of the TNNI3 gene, results from a deletion of 4 nucleotides within intron 7 of the TNNI3 gene. These nucleotide positions are well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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