ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49955C>T (p.Pro16652Leu)

dbSNP: rs727504966
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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 RCV000156377 SCV000206095 uncertain significance not specified 2014-02-13 criteria provided, single submitter clinical testing The Pro14084Leu variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s are limited for this variant but proline (Pro) at position 14084 is conserved in mammals and evolutionarily distant species, raising the possibility that a ch ange at this position may not be tolerated. Additional information is needed to fully assess the clinical significance of the Pro14084Leu variant.

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