ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80608C>A (p.Pro26870Thr)

gnomAD frequency: 0.00001  dbSNP: rs397517718
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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 RCV000040659 SCV000064350 uncertain significance not specified 2012-01-03 criteria provided, single submitter clinical testing The Pro24302Thr variant (TTN) has not been previously reported nor previously id entified by our laboratory. Proline (Pro) at position 24302 is highly conserved in mammals and across evolutionarily distant species, increasing the likelihood that a change would not be tolerated. Computational predictions on the impact to the protein are mixed (AlignGVGD = benign, SIFT = pathogenic), though the accur acy of these tools is unknown. Additional information is needed to fully assess the clinical significance of the Pro24302Thr variant.

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