ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78370A>T (p.Ile26124Phe)

dbSNP: rs397517713
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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 RCV000040636 SCV000064327 uncertain significance not specified 2012-04-18 criteria provided, single submitter clinical testing The Ile23556Phe variant (TTN) has not been reported in the literature nor previo usly idenitified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, PolyPhen2, and SIFT) suggest that the Ile23556Phe v ariant may impact the protein, though this information is not predictive enough to determine pathogenicity. Additional information is needed to fully assess the clinical significance of this variant.

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