ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61163C>G (p.Ala20388Gly)

gnomAD frequency: 0.00001  dbSNP: rs397517648
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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 RCV000040439 SCV000064130 uncertain significance not specified 2013-03-06 criteria provided, single submitter clinical testing The Ala17820Gly variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has not been identified in lar ge and broad European American and African American populations by the NHLBI Exo me Sequencing Project (http://evs.gs.washington.edu/EVS/), though it may be comm on in other populations. Computational analyses (biochemical amino acid properti es, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional studies are needed to fully assess the clinical significance of this variant.

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