ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) (rs55914517)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172732 SCV000051346 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040201 SCV000063892 uncertain significance not specified 2014-07-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala1081Thr vari ant in TTN has been identified by our laboratory in 2 adults with HCM, including one who carries a pathogenic variant in another gene. This variant has been ide ntified in 0.1% (9/8600) of European American chromosomes by the NHLBI Exome Seq uencing Project (; dbSNP rs59914517). Computati onal prediction tools and conservation analysis do not provide strong support fo r or against an impact to the protein. In summary, while the clinical significan ce of the Ala1081Thr variant is uncertain, its frequency suggests that it is mor e likely to be benign.
GeneDx RCV000040201 SCV000237732 likely benign not specified 2017-03-06 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.
Genetic Services Laboratory, University of Chicago RCV000040201 SCV000249254 uncertain significance not specified 2015-04-08 criteria provided, single submitter clinical testing
Invitae RCV000172732 SCV000286578 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253970 SCV000318004 uncertain significance Cardiovascular phenotype 2012-11-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040201 SCV000333906 likely benign not specified 2016-01-19 criteria provided, single submitter clinical testing

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