ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) (rs761402128)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000217473 SCV000237985 likely benign not specified 2017-03-13 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217473 SCV000272658 uncertain significance not specified 2017-08-04 criteria provided, single submitter clinical testing The p.Arg1330His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 7/110486 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSN P rs761402128). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg1330His variant is uncertain.
Invitae RCV000643782 SCV000765469 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-27 criteria provided, single submitter clinical testing

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