ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.89252T>C (p.Ile29751Thr)

gnomAD frequency: 0.00001  dbSNP: rs397517742
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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 RCV000040756 SCV000064447 uncertain significance not specified 2012-02-22 criteria provided, single submitter clinical testing The Ile27183Thr variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, and SIFT) do not provide strong support f or or against and impact to the protein. Additional information is needed to ful ly assess the clinical significance of the Ile27183Thr variant.

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