ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) (rs72650035)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040153 SCV000063844 uncertain significance not specified 2012-11-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Tyr9776Cys vari ant in TTN has not been reported in the literature nor previously identified by our laboratory. This variant has been identified in 1/8230 European American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washington.edu/EVS; dbSNP rs72650035). In addition, tyrosine (Tyr) at posi tion 9776 is not conserved in multiple mammals nor in distantly related species and computational analyses (biochemical amino acid properties, AlignGVGD, PolyPh en2, and SIFT) suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the lack of conservation in some primates and most non-primates supports that this variant may be benign, but additional information is needed to fully assess its clinical significance.
GeneDx RCV000040153 SCV000237092 likely benign not specified 2017-11-10 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.
Ambry Genetics RCV000244280 SCV000318082 uncertain significance Cardiovascular phenotype 2012-12-24 criteria provided, single submitter clinical testing
Invitae RCV000540453 SCV000642997 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-05-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725326 SCV000700944 uncertain significance not provided 2018-08-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770061 SCV000901487 uncertain significance Cardiomyopathy 2017-10-06 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852874 SCV000995608 likely benign Arrhythmogenic right ventricular cardiomyopathy 2017-08-16 criteria provided, single submitter clinical testing

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