ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) (rs200181804)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723763 SCV000114448 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000152208 SCV000237596 uncertain significance not specified 2016-09-30 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 RCV000301222 SCV000421561 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353634 SCV000421562 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261192 SCV000421563 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332574 SCV000421564 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389361 SCV000421565 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274015 SCV000421566 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467146 SCV000542269 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152208 SCV000200970 uncertain significance not specified 2013-05-03 criteria provided, single submitter clinical testing The Phe24187Leu variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 2/8230 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs20018 1804). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, and PolyPhen2) do not provide strong support for or against an impact to the protein. At this time, additional information is needed to fully assess the clinical significance of this variant.

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