ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97285G>A (p.Gly32429Ser) (rs397517768)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040852 SCV000064543 uncertain significance not specified 2012-08-24 criteria provided, single submitter clinical testing The Gly29861Ser variant in TTN has not been reported in the literature but has b een identified by our laboratory in one individual with neonatal HCM who also ca rried two other variants of uncertain significance. In addition, this variant ha s not been identified in large and broad populations by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS). Computational analyses (biochemic al amino acid properties, conservation, PolyPhen2, and SIFT) do not provide supp ort for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Gly29861Ser variant.
Genetic Services Laboratory, University of Chicago RCV000040852 SCV000597634 uncertain significance not specified 2016-12-20 criteria provided, single submitter clinical testing

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