ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15040A>G (p.Thr5014Ala)

dbSNP: rs143093473
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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, Mass General Brigham Personalized Medicine RCV000222454 SCV000272582 uncertain significance not specified 2015-06-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr3770Ala va riant in TTN has not been previously reported in individuals with cardiomyopathy , but has been identified in 9/16040 South Asian chromosomes by the Exome Aggreg ation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs143093473). Comp utational prediction tools and conservation analysis suggest that this variant m ay not impact the protein and 2 fish species (coelacanth and spotted gar) carry an alanine (Ala) at this position, raising the possibility that this change may be tolerated; however, this information is not predictive enough to rule out pat hogenicity. In summary, while the clinical significance of the p.Thr3770Ala vari ant is uncertain, these data suggest that it is more likely to be benign.
Genetics and Genomics Program, Sidra Medicine RCV001293139 SCV001434129 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research

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