ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78062C>G (p.Pro26021Arg)

gnomAD frequency: 0.00003  dbSNP: rs727504982
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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 RCV000156397 SCV000206115 uncertain significance not specified 2014-03-12 criteria provided, single submitter clinical testing The Pro23453Arg variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Proline (Pro) at position 234 53 is not conserved in evolution and 1 mammal (rat) and several bird species car ry an arginine (Arg) at this position, raising the possibility that this change is tolerated. In summary, additional information is needed to fully assess the c linical significance of the Pro23453Arg variant.

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