ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)

gnomAD frequency: 0.00012  dbSNP: rs727503600
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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 RCV000152300 SCV000201167 uncertain significance not specified 2014-01-28 criteria provided, single submitter clinical testing The Thr15892Ala variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. The affected amino acid is well conserve d in evolution, suggesting that a change would not be tolerated. Other computati onal analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT ) do not provide strong support for or against an impact to the protein. Additio nal information is needed to fully assess the clinical significance of the Thr15 892Ala variant.
Invitae RCV000533354 SCV000643377 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-28 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727413 SCV000708308 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768986 SCV000900359 uncertain significance Cardiomyopathy 2017-09-21 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000768986 SCV000995215 uncertain significance Cardiomyopathy 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000727413 SCV001813430 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433661 SCV002749486 uncertain significance Cardiovascular phenotype 2019-09-27 criteria provided, single submitter clinical testing The p.T9395A variant (also known as c.28183A>G), located in coding exon 113 of the TTN gene, results from an A to G substitution at nucleotide position 28183. The threonine at codon 9395 is replaced by alanine, an amino acid with 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 RCV000727413 SCV003827406 uncertain significance not provided 2022-03-15 criteria provided, single submitter clinical testing

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