ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.16016A>G (p.Asp5339Gly)

gnomAD frequency: 0.00009  dbSNP: rs372997814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216629 SCV000272858 uncertain significance not specified 2015-09-28 criteria provided, single submitter clinical testing The p.Asp5339Gly variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 9/66062 European chromosomes and 4/11372 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs372997814). Computational prediction tools and con servation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Asp5339Gly variant is u ncertain.
Eurofins Ntd Llc (ga) RCV000727417 SCV000708333 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000727417 SCV001153117 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing

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