ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.26762-39TTTGT[7] (rs71393436)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040059 SCV000063750 benign not specified 2017-08-10 criteria provided, single submitter clinical testing c.23030-39TTTGT[7] in intron 89 of TTN: This variant is part of a 5-bp repeat ( TTTGT) and adds one repeat unit to the 6 present in the reference sequence. Alt hough this variant is located in the splice region, computational tools do not p redict an effect. This variant is not expected to have clinical significance bec ause similar variants within this repeat region have been identified in 0.4% ( 6 5/15162) of African chromosomes by the Genome Aggregation Database (gnomAD, http ://gnomad.broadinstitute.org; dbSNP rs79799565). Additionally, this variant has been identified in 231 individuals by our laboratory, at least 37 of which were found to have an alternate cause for disease.
GeneDx RCV000040059 SCV000236747 benign not specified 2014-08-21 criteria provided, single submitter clinical testing The variant is found in CARDIOMYOPATHY panel(s).
Genetic Services Laboratory,University of Chicago RCV000040059 SCV000249246 likely benign not specified 2015-03-23 criteria provided, single submitter clinical testing
Invitae RCV000205385 SCV000262475 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-02-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373966 SCV000423944 likely benign Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281725 SCV000423945 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348484 SCV000423946 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313240 SCV000423948 likely benign Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351759 SCV000423949 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769908 SCV000901334 benign Cardiomyopathy 2016-10-07 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000040059 SCV001362649 benign not specified 2019-08-19 criteria provided, single submitter clinical testing Variant summary: TTN c.23030-14_23030-10dupTTTGT alters a non-conserved 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 0.2 in 131482 control chromosomes in the gnomAD database, including 3533 homozygotes. The observed variant frequency is approximately 315 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Cardiomyopathy phenotype (0.00063), strongly suggesting that the variant is benign. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040059 SCV000203730 benign not specified 2014-01-13 no assertion criteria provided clinical testing

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