ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51437-9G>A

gnomAD frequency: 0.00011  dbSNP: rs183060991
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Total submissions: 3
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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 RCV000608971 SCV000711411 uncertain significance not specified 2017-05-22 criteria provided, single submitter clinical testing The c.43733-9G>A variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/23770 African chromosomes by t he genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs183060991). This variant is located in the 3' splice region. Computational to ols do not suggest an impact to splicing. However, this information is not predi ctive enough to rule out pathogenicity. In summary, the clinical significance of the c.43733-9G>A variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV001491312 SCV001695899 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001584412 SCV001818137 likely benign not provided 2021-02-12 criteria provided, single submitter clinical testing

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