ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.961G>A (p.Val321Ile)

dbSNP: rs876658099
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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 RCV000218560 SCV000272830 uncertain significance not specified 2014-12-31 criteria provided, single submitter clinical testing The p.Val321Ile variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Valine (Val) at position 321 is not completely conserved in evolution and 2 mammals (panda, elephant) carry a n isoleucine (Ile) at this position, raising the possibility that this change ma y be tolerated. Additional computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical signif icance of the p.Val321Ile variant is uncertain.

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