ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30434-15G>A

gnomAD frequency: 0.00001  dbSNP: rs373562293
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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 RCV000609407 SCV000711413 uncertain significance not specified 2016-04-29 criteria provided, single submitter clinical testing The c.26702-15G>A variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/9778 African chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3 73562293). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictiv e enough to rule out pathogenicity. In summary, the clinical significance of the c.26702-15G>A variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062122 SCV002453876 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-03 criteria provided, single submitter clinical testing

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