ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)

gnomAD frequency: 0.00007  dbSNP: rs727503604
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152313 SCV000201194 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing The Arg15368His variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. Additional information is needed to fully assess the clinica l significance of the Arg15368His variant.
GeneDx RCV000726541 SCV000237294 likely benign not provided 2021-03-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726541 SCV000345345 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
Invitae RCV000462180 SCV000542509 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618978 SCV000736657 uncertain significance Cardiovascular phenotype 2018-02-06 criteria provided, single submitter clinical testing The p.R8871H variant (also known as c.26612G>A), located in coding exon 106 of the TTN gene, results from a G to A substitution at nucleotide position 26612. The arginine at codon 8871 is replaced by histidine, 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.
Athena Diagnostics Inc RCV000726541 SCV001879659 uncertain significance not provided 2020-12-14 criteria provided, single submitter clinical testing

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