ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) (rs376768790)

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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 RCV000620387 SCV000736824 likely benign Cardiovascular phenotype 2017-04-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770154 SCV000901580 uncertain significance Cardiomyopathy 2015-10-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725605 SCV000338095 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000040109 SCV000237549 likely benign not specified 2018-03-12 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 RCV000471292 SCV000542255 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2016-09-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040109 SCV000063800 likely benign not specified 2015-07-23 criteria provided, single submitter clinical testing p.Val896Ile in exon 16 of TTN: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, several mammals have isoleucine (Ile) at this position despite high nearby a mino acid conservation. This variant has been identified in 8/16510 South Asian chromosomes and 5/10404 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs376768790).

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