ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln)

gnomAD frequency: 0.00022  dbSNP: rs199710082
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727494 SCV000237928 likely benign not provided 2020-01-30 criteria provided, single submitter clinical testing
Invitae RCV000458275 SCV000543072 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727494 SCV000709119 uncertain significance not provided 2017-06-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170287 SCV001332851 likely benign Cardiomyopathy 2018-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399691 SCV002669328 uncertain significance Cardiovascular phenotype 2019-01-14 criteria provided, single submitter clinical testing The p.R25775Q variant (also known as c.77324G>A), located in coding exon 185 of the TTN gene, results from a G to A substitution at nucleotide position 77324. The arginine at codon 25775 is replaced by glutamine, an amino acid with highly similar properties. This variant was reported (as NM_001267550.1:c.104519G>A p.R34840Q) in an individual with restrictive cardiomyopathy, who also had additional cardiac variants detected (Kostareva A et al. PLoS ONE Sep;11:e0163362). 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 RCV000727494 SCV003821148 uncertain significance not provided 2023-09-24 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000727494 SCV001921135 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000727494 SCV001970284 uncertain significance not provided no assertion criteria provided clinical testing

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