ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86810T>A (p.Val28937Glu)

dbSNP: rs1702746268
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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 RCV001195642 SCV001366041 uncertain significance not specified 2019-09-27 criteria provided, single submitter clinical testing The p.Val26369Glu variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2.

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