ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) (rs186624523)

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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 RCV000619410 SCV000736543 uncertain significance Cardiovascular phenotype 2016-01-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000713965 SCV000844617 likely benign not provided 2018-07-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769092 SCV000900465 uncertain significance Cardiomyopathy 2017-07-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713965 SCV000700978 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000154999 SCV000238168 likely benign not specified 2017-06-01 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154999 SCV000204681 likely benign not specified 2014-12-23 criteria provided, single submitter clinical testing p.Glu3692Lys in exon 45B of TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, the chinchilla, bush-tailed rat, rabbit, and pika have a lysine (Lys) at t his position despite high nearby amino acid conservation. It has also been ident ified in 41/67642 European chromosomes by the Exome Aggregation Consortium (ExAC ,; dbSNP rs186624523).

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