ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu)

gnomAD frequency: 0.00006  dbSNP: rs777009984
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001528592 SCV005408915 uncertain significance not provided 2024-03-21 criteria provided, single submitter clinical testing
GeneDx RCV001528592 SCV001814910 likely benign not provided 2018-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461917 SCV000543153 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-07-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214672 SCV000272743 uncertain significance not specified 2015-04-14 criteria provided, single submitter clinical testing The p.Asp2140Glu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/66660 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computa tional prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance o f the p.Asp2140Glu variant is uncertain.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528592 SCV001979320 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528592 SCV001967641 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001528592 SCV001922029 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528592 SCV001740565 uncertain significance not provided no assertion criteria provided clinical testing

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