ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13252T>A (p.Tyr4418Asn)

dbSNP: rs876658104
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Total submissions: 1
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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 RCV000219136 SCV000272850 uncertain significance not specified 2015-05-01 criteria provided, single submitter clinical testing The p.Tyr4418Asn variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis are limited or unavailable for this v ariant. In summary, the clinical significance of the p.Tyr4418Asn variant is unc ertain.

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