ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.100172-17dup (rs397517782)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040895 SCV000064586 benign not specified 2015-01-26 criteria provided, single submitter clinical testing 92468-10_92468-9insT in intron 305 of TTN: This variant is not expected to have clinical significance because it has been identified in 1.2% (104/8792) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs397517782).
GeneDx RCV000040895 SCV000236698 benign not specified 2014-06-16 criteria provided, single submitter clinical testing The variant is found in CARDIOMYOPATHY,DCM-CRDM panel(s).
Invitae RCV001079618 SCV000286380 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309583 SCV000420313 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366459 SCV000420314 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264912 SCV000420315 uncertain significance Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322481 SCV000420316 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379379 SCV000420317 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268603 SCV000420318 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000040895 SCV000597633 benign not specified 2017-11-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768838 SCV000900211 benign Cardiomyopathy 2017-04-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000233669 SCV001146294 benign not provided 2019-07-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000040895 SCV001158904 benign not specified 2019-01-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000040895 SCV001360460 benign not specified 2019-08-13 criteria provided, single submitter clinical testing Variant summary: TTN c.92468-10dupT alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0055 in 178860 control chromosomes, predominantly at a frequency of 0.011 within the South Asian subpopulation in the gnomAD database, including 1 homozygotes. The observed variant frequency within South Asian control individuals in the gnomAD database is approximately 18-folds over the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Cardiomyopathy phenotype (0.00063), strongly suggesting that the variant is a benign polymorphism found primarily in populations of South Asian origin. Five ClinVar submissions (evaluation after 2014) cite the variant three times as benign, once as likely benign and once as uncertain significance. Based on the evidence outlined above, the variant was classified as benign.

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