ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79127C>A (p.Ala26376Glu)

gnomAD frequency: 0.00001  dbSNP: rs397517714
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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 RCV000040641 SCV000064332 uncertain significance not specified 2012-08-27 criteria provided, single submitter clinical testing The Ala23808Glu variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to ful ly assess the clinical significance of this variant.

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