ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50647C>T (p.Pro16883Ser)

dbSNP: rs397517602
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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 RCV000040318 SCV000064009 uncertain significance not specified 2011-12-13 criteria provided, single submitter clinical testing The Pro14315Ser variant (TTN) has not been previously reported nor previously id entified by our laboratory. Proline (Pro) at position 14315 is highly conserved across evolutionarily distant species, increasing the likelihood that a change m ay not be tolerated. Computational tools (AlignGVGD and SIFT) predict the change to serine (Ser) would impact the protein, though the accuracy of these tools is unknown. Additional information is needed to fully assess the clinical signific ance of the Pro14315Ser variant.

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