ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) (rs727504797)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156123 SCV000205837 uncertain significance not specified 2015-07-30 criteria provided, single submitter clinical testing The p.Glu26343del variant in TTN has been identified by our laboratory in 1 Cauc asian adult with DCM and has also been identified in 15/66666 European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). T his variant is a an in-frame deletion of 1 amino acid at position 26343. It is u nclear if this deletion will impact the protein. In summary, the clinical signif icance of the p.Glu26343 variant is uncertain.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724632 SCV000228568 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV000472404 SCV000543077 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000156123 SCV000730422 likely benign not specified 2018-03-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000622018 SCV000736942 uncertain significance Cardiovascular phenotype 2020-07-29 criteria provided, single submitter clinical testing The c.59537_59539delAAG variant (also known as p.E19846del) is located in coding exon 153 of the TTN gene. This variant results from an in-frame AAG deletion at nucleotide positions 59537 to 59539. This results in the in-frame deletion of a glutamic acid residue at codon 19846. This variant, designated as p.E26343del, was detected in a cardiomyopathy genetic testing cohort; however, clinical details were limited, and additional cardiac variants were detected in some cases (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724632 SCV001152695 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing

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