ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48395G>A (p.Arg16132His)

gnomAD frequency: 0.00004  dbSNP: rs397517593
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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 RCV000040291 SCV000063982 uncertain significance not specified 2011-12-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg13564His var iant (TTN) has not been previously reported nor previously identified by our lab oratory. Arginine (Arg) at position 13564 is not conserved in mammals and lower species, increasing the likelihood that a change may be tolerated. Computational tools are mixed on the predicted impact to the protein (AlignGVGD = benign, SIF T = pathogenic), though the accuracy of these tools is unknown. Additional infor mation is needed to fully assess the clinical significance of the Arg13564His va riant.
Eurofins Ntd Llc (ga) RCV000727035 SCV000705077 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000727035 SCV001818701 likely benign not provided 2019-04-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24503780)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798154 SCV002042509 uncertain significance Cardiomyopathy 2020-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415481 SCV002727091 uncertain significance Cardiovascular phenotype 2020-03-27 criteria provided, single submitter clinical testing The p.R7067H variant (also known as c.21200G>A), located in coding exon 85 of the TTN gene, results from a G to A substitution at nucleotide position 21200. The arginine at codon 7067 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly 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 RCV000727035 SCV003821764 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing

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