ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74533A>C (p.Ile24845Leu)

gnomAD frequency: 0.00001  dbSNP: rs1214451388
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516907 SCV000616141 uncertain significance not specified 2017-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341215 SCV002639317 uncertain significance Cardiovascular phenotype 2020-02-11 criteria provided, single submitter clinical testing The p.I15780L variant (also known as c.47338A>C), located in coding exon 153 of the TTN gene, results from an A to C substitution at nucleotide position 47338. The isoleucine at codon 15780 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly 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.
Revvity Omics, Revvity RCV001701028 SCV003819153 uncertain significance not provided 2020-12-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001701028 SCV005188117 uncertain significance not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV001701028 SCV005413035 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing BP4
Clinical Genetics, Academic Medical Center RCV001701028 SCV001918276 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001701028 SCV001962893 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701028 SCV001979693 uncertain significance not provided no assertion criteria provided clinical testing

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