ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.39419C>T (p.Ala13140Val)

dbSNP: rs397517556
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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 RCV000040195 SCV000063886 uncertain significance not specified 2012-08-21 criteria provided, single submitter clinical testing The Ala10706Val 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, AlignGVGD, PolyPhen2, and SIFT) suggest that the va riant may not impact the protein and another mammal (rabbit) carries a valine (V al; this variant) at this position despite high nearby amino acid conservation. However, this information is not predictive enough to rule out pathogenicity. Ad ditional information is needed to fully assess the clinical significance of this variant.

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