ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43417G>C (p.Asp14473His) (rs397517573)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617879 SCV000735480 uncertain significance Cardiovascular phenotype 2016-08-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726234 SCV000701309 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000726234 SCV000982650 likely benign not provided 2018-03-21 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 RCV000040237 SCV000063928 uncertain significance not specified 2015-03-11 criteria provided, single submitter clinical testing The p.Asp11905His variant in TTN has been identified by our laboratory in 1 Ashk enazi Jewish individual with HCM. This variant was also identified in 0.04% (28/ 66604) of European chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs397517573). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary , the clinical significance of the p.Asp11905His variant is uncertain.

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