ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64147G>A (p.Ala21383Thr)

gnomAD frequency: 0.00001  dbSNP: rs727503582
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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 RCV000152257 SCV000201084 uncertain significance not specified 2014-09-10 criteria provided, single submitter clinical testing The Ala18815Thr variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Computational prediction tools and conse rvation analysis do not provide strong support for or against an impact to the p rotein. In summary, the clinical significance of this variant is uncertain.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769978 SCV000901404 uncertain significance Cardiomyopathy 2017-10-19 criteria provided, single submitter clinical testing

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