ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18680C>T (p.Pro6227Leu)

gnomAD frequency: 0.00010  dbSNP: rs376846228
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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 RCV000616270 SCV000710965 uncertain significance not specified 2018-01-19 criteria provided, single submitter clinical testing The p.Pro4983Leu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/24004 African chromosomes by t he Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs376846228). Computational prediction tools and conservation analysis suggest that the p.Pro4983Leu variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical sign ificance of the p.Pro4983Leu variant is uncertain. ACMG/AMP Criteria applied: PM 2; PP3.

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