ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41143G>A (p.Ala13715Thr)

dbSNP: rs1192068092
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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 RCV001195641 SCV001366040 uncertain significance not specified 2019-08-28 criteria provided, single submitter clinical testing The p.Ala11147Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.001% (1/112304) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: PM2, PP3.

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