ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) (rs377289817)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216081 SCV000272669 uncertain significance not specified 2015-05-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro14352Ala v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.2% (22/9750) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs377289817 ). Computational prediction tools and conservation analysis do not provide stro ng support for or against an impact to the protein. In summary, while the clinic al significance of the p.Pro14352Ala variant is uncertain, its frequency suggest s that it is more likely to be benign.
Ambry Genetics RCV000253790 SCV000320228 likely benign Cardiovascular phenotype 2019-09-10 criteria provided, single submitter clinical testing Insufficient evidence;Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725245 SCV000335254 uncertain significance not provided 2018-08-28 criteria provided, single submitter clinical testing
Invitae RCV001085087 SCV000555419 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000216081 SCV000730381 likely benign not specified 2017-05-31 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.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852848 SCV000995579 likely benign Dilated cardiomyopathy 2018-02-07 criteria provided, single submitter clinical testing

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