ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) (rs201388509)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000591920 SCV000237226 likely benign not specified 2018-01-24 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.
Invitae RCV000725808 SCV000286689 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725808 SCV000701146 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000591920 SCV000710956 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asp13432His v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.18% (117/66584) of European chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs20138 8509). Computational prediction tools and conservation analysis do not provide s trong support for or against an impact to the protein. In summary, while the cli nical significance of the p.Asp13432His variant is uncertain, its frequency sugg ests that it is more likely to be benign.
Ambry Genetics RCV000621855 SCV000736925 uncertain significance Cardiovascular phenotype 2017-09-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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