ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) (rs199643269)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727313 SCV000707479 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000215351 SCV000716841 likely benign not specified 2017-03-15 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 RCV000459142 SCV000543078 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215351 SCV000272726 uncertain significance not specified 2017-06-28 criteria provided, single submitter clinical testing The p.Arg19490Cys variant in TTN has been reported by our laboratory in 1 indivi dual with DCM, has been identified in 0.09% (20/23668) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbS NP rs199643269), and has been reported in ClinVar (Variation ID: 229491). While truncating variants in TTN are strongly associated with DCM (Herman 2012), the r ole of missense variants and in-frame deletions/insertions has yet to be elucida ted. Computational prediction tools and conservation analysis do not provide str ong support for or against an impact to the protein. In summary, the clinical si gnificance of the p.Arg19490Cys variant is uncertain.

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