ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1349C>T (p.Ala450Val)

dbSNP: rs727503706
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Total submissions: 2
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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 RCV000152530 SCV000201721 uncertain significance not specified 2014-05-14 criteria provided, single submitter clinical testing The Ala450Val variant in TTN has not been previously reported in individuals wit h cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. In summary, the clinical significance of the Ala450Val variant is uncertain.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170878 SCV001333500 uncertain significance Cardiomyopathy 2018-10-01 criteria provided, single submitter clinical testing

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