ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91478A>G (p.Glu30493Gly)

dbSNP: rs397517754
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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 RCV000040778 SCV000064469 uncertain significance not specified 2011-12-13 criteria provided, single submitter clinical testing The Glu27925Gly variant (TTN) has not been previously reported nor previously id entified by our laboratory. Glutamic acid (Glu) at position 27925 is highly cons erved across evolutionarily distant species, increasing the likelihood that a ch ange may not be tolerated. Computational tools are mixed on the predicted impact to the protein (AlignGVGD = benign, SIFT = pathogenic), though the accuracy of these tools is unknown. Additional information is needed to fully assess the cli nical significance of the Glu27925Gly variant.

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