ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln) (rs201825412)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243770 SCV000318826 likely benign Cardiovascular phenotype 2013-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000220238 SCV000237273 uncertain significance not specified 2012-12-17 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000349767 SCV000422947 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405647 SCV000422948 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310177 SCV000422949 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346465 SCV000422950 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394740 SCV000422951 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306260 SCV000422952 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460845 SCV000542474 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220238 SCV000272676 uncertain significance not specified 2015-03-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg14693Gln v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 14/66106 European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201825412). Argin ine (Arg) at position 14693 is not conserved in evolutionarily distant species a nd 3 species (painted turtle, lizard, and frog) carry a glutamine (Gln) at this position, raising the possibility that this change may be tolerated. Additional computational prediction tools do not provide strong support for or against an i mpact to the protein. In summary, while the clinical significance of the p.Arg14 693Gln variant is uncertain, the present of the variant amino acid in multiple o ther species suggests that it is more likely to be benign.

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