ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88459G>A (p.Val29487Met) (rs200899806)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723789 SCV000114466 uncertain significance not provided 2013-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000040748 SCV000237699 likely benign not specified 2017-03-30 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.
Invitae RCV000230016 SCV000286894 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040748 SCV000064439 uncertain significance not specified 2012-03-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val26919Met var iant (TTN) has been identified in 0.1% (7/6662) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS). Computational analyses (biochemical amino acid properties, co nservation, AlignGVGD, and PolyPhen2) suggest that the Val26919Met variant may n ot impact the protein, though this information is not predictive enough to rule out pathogenicity. While the frequency as well as computational data suggests th at this variant is more likely benign, it is too low to confidently rule out a d isease causing role. Additional information is needed to fully assess its clinic al significance.

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