ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys)

dbSNP: rs750303653
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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 RCV000213571 SCV000272800 uncertain significance not specified 2015-04-16 criteria provided, single submitter clinical testing The p.Arg28492Cys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 3/16508 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Com putational prediction tools and conservation analysis do not provide strong supp ort for or against an impact to the protein. In summary, the clinical significan ce of the p.Arg28492Cys variant is uncertain.
Invitae RCV000643311 SCV000764998 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-11 criteria provided, single submitter clinical testing

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