ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) (rs377337528)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155820 SCV000205531 likely benign not specified 2014-01-22 criteria provided, single submitter clinical testing Ala33039Val in exon 309 of TTN: This variant is not expected to have clinical si gnificance due to a lack of evolutionary conservation, specifically in mammals. Of note, 3 mammals (bat, microbat, and big brown bat) have a valine (Val) at thi s position despite high nearby amino acid conservation, suggesting that this cha nge is tolerated. This variant has also been identified in 2/8252 European Ameri can chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS/; dbSNP rs377337528).
GeneDx RCV000155820 SCV000237966 uncertain significance not specified 2015-10-01 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,DCM-CRDM panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000260975 SCV000419857 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316313 SCV000419858 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375521 SCV000419859 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262328 SCV000419860 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322180 SCV000419861 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376840 SCV000419862 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542437 SCV000642601 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-09-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726570 SCV000701608 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726570 SCV001152560 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing

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