ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58774A>G (p.Thr19592Ala)

gnomAD frequency: 0.00001  dbSNP: rs769094173
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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 RCV000826069 SCV000967563 uncertain significance not specified 2018-04-06 criteria provided, single submitter clinical testing The p.Thr17024Ala variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/111250 of European chromosome s by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs769094173). Computational prediction tools and conservation analysis sug gest that the p.Thr17024Ala variant may impact the protein, though this informat ion is not predictive enough to determine pathogenicity. In summary, the clinica l significance of the p.Thr17024Ala variant is uncertain. ACMG/AMP Criteria appl ied: PM2; PP3.
GeneDx RCV004726697 SCV005334902 uncertain significance not provided 2023-05-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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