ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) (rs397517731)

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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 RCV000040712 SCV000064403 likely benign not specified 2016-01-26 criteria provided, single submitter clinical testing p.Ile25779Thr in exon 275 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, several mammals and evolutionarily distant species have a threonine (Thr) at this position despite high nearby amino acid conservation. In addition, com putational prediction tools suggest it may not impact the protein. It has been i dentified in 2/66690 European chromosomes by the Exome Aggregation Consortium (E xAC, http://exac.broadinstitute.org; dbSNP rs397517731).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724198 SCV000228528 uncertain significance not provided 2014-12-10 criteria provided, single submitter clinical testing
Invitae RCV000227162 SCV000286876 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-03-17 criteria provided, single submitter clinical testing

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