ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])

dbSNP: rs397517815
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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, Mass General Brigham Personalized Medicine RCV000041053 SCV000064744 likely benign not specified 2015-04-09 criteria provided, single submitter clinical testing p.Thr5102_Glu5112dup in exon 45A of TTN: This variant is not expected to be clin ically significant because it has been identified in 0.6% (376/66452) European c hromosomes, including 2 homozygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397517815) and in 1.1% (4/372) Caucasian control chromosomes tested by our laboratory (LMM unpublished data).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000041053 SCV000740483 likely benign not specified 2017-01-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000786262 SCV001334681 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing TTN: PM4, BS2
GeneDx RCV000786262 SCV001847297 benign not provided 2019-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496655 SCV002804680 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2022-02-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537134 SCV004741583 likely benign TTN-related disorder 2019-08-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786262 SCV000925013 uncertain significance not provided 2016-07-27 no assertion criteria provided provider interpretation p.Thr5102_Glu5112dup (T5102_E5112dup, c.15285_15317dup33:) in exon 46 of the TTN gene (NM_133379.3, alternate transcript). Seen in a patient in our center with LVNC and reduced systolic function. Given the location, lack of case data, and frequency in ExAC, we consider this variant a variant of uncertain significance, probably benign and we do not feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). The variant has not been reported in association with disease. Based on the genomic position (hg19 ) and https://cardiodb.org/titin/ it appears the variant is in the I-band distant from the A band. To date it appears that pathogenic variants in TTN are in the A band (or the I band near the A band). ExAC: 0.6% (376/66452) European chromosomes.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000786262 SCV001800155 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000041053 SCV001920706 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000786262 SCV001953317 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000041053 SCV001975692 benign not specified no assertion criteria provided clinical testing

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