ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71399G>A (p.Arg23800His)

gnomAD frequency: 0.00004  dbSNP: rs537705563
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473646 SCV000542894 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729944 SCV000857647 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329023 SCV002629201 uncertain significance Cardiovascular phenotype 2020-08-25 criteria provided, single submitter clinical testing The p.R14735H variant (also known as c.44204G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 44204. The arginine at codon 14735 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.
Revvity Omics, Revvity RCV000729944 SCV003827369 uncertain significance not provided 2020-12-10 criteria provided, single submitter clinical testing

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