ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) (rs72648940)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249224 SCV000318953 likely benign Cardiovascular phenotype 2013-09-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000172697 SCV000844631 likely benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172697 SCV000051261 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172697 SCV000332604 uncertain significance not provided 2015-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000039888 SCV000238233 likely benign not specified 2017-05-05 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 RCV000206454 SCV000262146 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039888 SCV000063579 uncertain significance not specified 2014-11-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp4272Tyr va riant in TTN has been identified by our laboratory in 2 adults with DCM, one of whom carried another pathogenic variant in TTN. This variant has been identified in 0.1% (11/8216) of European American chromosomes by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; dbSNP rs72648940). Computational p rediction tools and conservation analysis do not provide strong support for or a gainst an impact to the protein. In summary, while the clinical significance of the p.Asp4272Tyr variant is uncertain, its frequency suggests that it is more li kely to be benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660557 SCV000782666 uncertain significance Limb-girdle muscular dystrophy, type 2J 2017-05-22 criteria provided, single submitter clinical testing

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