ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12844A>C (p.Ile4282Leu)

gnomAD frequency: 0.00017  dbSNP: rs56244420
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726557 SCV000345479 uncertain significance not provided 2016-09-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000387917 SCV000615989 uncertain significance not specified 2016-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328792 SCV002632020 uncertain significance Cardiovascular phenotype 2018-11-20 criteria provided, single submitter clinical testing The p.I3919L variant (also known as c.11755A>C), located in coding exon 44 of the TTN gene, results from an A to C substitution at nucleotide position 11755. The isoleucine at codon 3919 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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