ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13075G>A (p.Ala4359Thr)

dbSNP: rs876658103
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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 RCV000221243 SCV000272848 uncertain significance not specified 2015-02-03 criteria provided, single submitter clinical testing The p.Ala4359Thr variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis are limited or unavailable for this variant. In sum mary, the clinical significance of the p.Ala4359Thr variant is uncertain.

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