ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25510A>C (p.Met8504Leu)

gnomAD frequency: 0.00002  dbSNP: rs761929830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468480 SCV000542418 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-07-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615043 SCV000712347 uncertain significance not specified 2016-06-24 criteria provided, single submitter clinical testing The p.Met7260Leu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/11518 Latino chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs76 1929830). Computational prediction tools and conservation analysis suggest that the p.Met7260Leu variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical signif icance of the p.Met7260Leu variant is uncertain.
Revvity Omics, Revvity RCV003139610 SCV003822847 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing

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