ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) (rs73036377)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618164 SCV000737332 uncertain significance Cardiovascular phenotype 2017-12-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118782 SCV000338122 uncertain significance not provided 2016-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000152210 SCV000237583 likely benign not specified 2018-01-11 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.
Genetic Services Laboratory, University of Chicago RCV000118782 SCV000153350 uncertain significance not provided 2014-03-13 criteria provided, single submitter clinical testing
Invitae RCV000233933 SCV000286844 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152210 SCV000200975 uncertain significance not specified 2014-03-05 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val23731Asp var iant in TTN has not been reported in individuals with cardiomyopathy, but has be en identified in 2/176 Nigerian and chromosomes and in 1/109 Puerto Rican chromo somes by the 1000 Genomes Project (dbSNP rs73036377). Computational prediction t ools and conservation analysis do not provide strong support for or against an i mpact to the protein. While the variant?s frequency suggests that it is more lik ely benign, it is too low to confidently rule out a disease causing role. Additi onal information is needed to fully assess its clinical significance.

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