ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) (rs200387466)

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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 RCV000727183 SCV000706454 uncertain significance not provided 2017-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000152325 SCV000237286 likely benign not specified 2018-02-05 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 RCV000465946 SCV000555467 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152325 SCV000201214 uncertain significance not specified 2014-07-16 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Met15117Ile var iant in TTN has been identified by our laboratory in 1 African American adult wi th LVH and a family history of cardiomyopathy and one Hispanic child with DCM wh o also carried a likely pathogenic variant in another gene. This variant has be en identified in 0.2% (8/3720) of African American chromosomes by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP 200387466). Methi onine (Met) at position 15117 is not conserved in evolution, supporting that a c hange at this position may be tolerated. In summary, while the clinical signific ance of the Met15117Ile variant is uncertain, its frequency and lack of conserva tion suggests that it is more likely to be benign.

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