ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) (rs72648230)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418059 SCV000515176 benign not specified 2015-07-28 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 RCV001086339 SCV000643832 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725633 SCV000701053 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000725633 SCV000884787 likely benign not provided 2018-03-25 criteria provided, single submitter clinical testing The c.80067C>A p.Gly26689Gly variant (rs72648230, ClinVar variant ID 378826) does not alter the amino acid sequence of the TTN protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 0.03% (identified on 7 out of 24,018 chromosomes), and evidence suggests that the vast majority of rare non-truncating TTN variants do not contribute to the clinical outcome of DCM (Begay 2015). Given the available evidence, the c.80067C>A variant is likely to be benign.

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