ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54882A>C (p.Lys18294Asn)

dbSNP: rs770482704
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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 RCV000825482 SCV000966785 uncertain significance not specified 2018-06-14 criteria provided, single submitter clinical testing The p.Lys15726Asn variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/106568 European chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Co mputational prediction tools and conservation analysis do not provide strong sup port for or against an impact to the protein. In summary, the clinical significa nce of the p.Lys15726Asn variant is uncertain. ACMG/AMP Criteria applied: PM2.

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