ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33404C>A (p.Ala11135Glu) (rs577901623)

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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 RCV000216585 SCV000272632 uncertain significance not specified 2015-02-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ala9891Glu va riant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 0.25% (41/16508) of South Asian chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Alanine (Ala ) at position 9891 is not conserved in mammals or evolutionarily distant species and 2 mammals (white rhinoceros and star nosed mole) carry a glutamic acid (Glu ) at this position, raising the possibility that this change may be tolerated. A dditional computational prediction tools suggest that the p.Ala9891Glu variant m ay not impact the protein, though this information is not predictive enough to r ule out pathogenicity. In summary, while the clinical significance of the p.Ala 9891Glu variant is uncertain, its frequency and lack of conservation suggest tha t it is more likely to be benign.
Genetic Services Laboratory, University of Chicago RCV000216585 SCV000597699 uncertain significance not specified 2016-03-23 criteria provided, single submitter clinical testing

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