ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)

dbSNP: rs189626540
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Total submissions: 8
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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 RCV000220297 SCV000272819 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing The p.Arg30898His variant in TTN has been previously identified by our laborator y in 1 individual with neonatal DCM, as well as in 9/34348 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbS NP rs189626540). This variant has been reported in ClinVar (Variation ID: 229558 ) as of uncertain significance. Computational prediction tools and conservation analysis suggest that the variant may impact the protein, though this informatio n is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg30898His variant is uncertain.
Invitae RCV000470440 SCV000542779 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731446 SCV000859264 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000731446 SCV001146295 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000731446 SCV001768484 likely benign not provided 2021-03-22 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002381748 SCV002674398 uncertain significance Cardiovascular phenotype 2020-01-02 criteria provided, single submitter clinical testing The p.R24401H variant (also known as c.73202G>A), located in coding exon 184 of the TTN gene, results from a G to A substitution at nucleotide position 73202. The arginine at codon 24401 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 RCV000731446 SCV003825627 uncertain significance not provided 2023-10-29 criteria provided, single submitter clinical testing
New York Genome Center RCV003448290 SCV004176086 uncertain significance Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 2023-06-09 criteria provided, single submitter clinical testing

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