ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) (rs141961878)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040116 SCV000063807 likely benign not specified 2014-03-19 criteria provided, single submitter clinical testing Val911Ile in exon16 of TTN: This variant has been identified in 1/4406 African A merican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washing ton.edu/EVS/; dbSNP rs141961878). It is not expected to have clinical significan ce due to a lack of evolutionary conservation. Of note, 4 mammalian species (gib bon, pika, white rhinoceros, and tasmanian devil) have an isoleucine (Ile) at th is position despite high nearby amino acid conservation.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725691 SCV000338650 uncertain significance not provided 2016-03-02 criteria provided, single submitter clinical testing
Invitae RCV000456367 SCV000542342 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-03 criteria provided, single submitter clinical testing

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