ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98684-10A>G

gnomAD frequency: 0.00001  dbSNP: rs727505072
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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 RCV000156510 SCV000206229 uncertain significance not specified 2017-12-08 criteria provided, single submitter clinical testing The c.90980-10A>G variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/110805 European chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbS NP rs72750572). This variant is located in the 3' splice region. Computational t ools do not suggest an impact to splicing. However, this information is not pred ictive enough to rule out pathogenicity. In summary, the clinical significance o f the c.90980-10A>G variant is uncertain. ACMG/AMP Criteria applied: PM2; BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV000964574 SCV001111795 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-22 criteria provided, single submitter clinical testing

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