ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74225G>A (p.Arg24742His)

gnomAD frequency: 0.00004  dbSNP: rs761823581
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002334651 SCV002636408 uncertain significance Cardiovascular phenotype 2020-03-17 criteria provided, single submitter clinical testing The p.R15677H variant (also known as c.47030G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 47030. The arginine at codon 15677 is replaced by histidine, 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.
Fulgent Genetics, Fulgent Genetics RCV002496056 SCV002788608 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-10-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001730409 SCV003824156 uncertain significance not provided 2020-11-20 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001730409 SCV001979316 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730409 SCV001980439 uncertain significance not provided no assertion criteria provided clinical testing

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