ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn) (rs112009206)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727744 SCV000855119 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000152421 SCV000238174 likely benign not specified 2017-11-13 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152421 SCV000201460 uncertain significance not specified 2013-10-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile3896Asn vari ant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.2% (8/3882) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs11200 9206). Computational analyses are limited or unavailable for this variant. While this frequency suggests that this variant is more likely benign, it is too low to confidently rule out a disease-causing role. Additional information is needed to fully assess its clinical significance.

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