ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg)

gnomAD frequency: 0.00006  dbSNP: rs727505213
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Total submissions: 5
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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 RCV000156710 SCV000206431 uncertain significance not specified 2014-08-13 criteria provided, single submitter clinical testing The Gly24196Arg variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the Gly24196Arg vari ant is uncertain.
Ambry Genetics RCV002345524 SCV002644878 uncertain significance Cardiovascular phenotype 2019-03-01 criteria provided, single submitter clinical testing The p.G17699R variant (also known as c.53095G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 53095. The glycine at codon 17699 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002505179 SCV002816239 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-09-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137684 SCV003825915 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing
GeneDx RCV003137684 SCV003836840 uncertain significance not provided 2023-02-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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