ClinVar Miner

Submissions for variant NM_001256850.1(TTN):c.29560+3G>A (rs563582627)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768890 SCV000900263 uncertain significance Cardiomyopathy 2015-12-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728822 SCV000856439 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000445119 SCV000515111 benign not specified 2015-03-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000546673 SCV000642960 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000445119 SCV000731280 uncertain significance not specified 2018-06-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.26779+3G>A va riant in TTN has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.02% (7/30782) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs5 63582627). This variant is located in the 5' splice region. Computational tools do suggest an impact to splicing; however, this information is not predictive en ough to determine pathogenicity. In summary, while the clinical significance of the c.26779+3G>A variant is uncertain, its frequency suggests that it is more l ikely to be benign. ACMG/AMP Criteria applied: BS1; PP3.

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