ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln)

gnomAD frequency: 0.00004  dbSNP: rs202017278
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172413 SCV000055076 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039854 SCV000063545 uncertain significance not specified 2014-07-16 criteria provided, single submitter clinical testing The Arg3486Gln variant in TTN has been identified by our laboratory in 1 Caucasi an adult with DCM and in 1/594 of European chromosomes by the ClinSeq Project (d bSNP rs202017278). Computational prediction tools and conservation analysis sugg est that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significa nce of the Arg3486Gln variant is uncertain.
Invitae RCV000474160 SCV000542679 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-24 criteria provided, single submitter clinical testing
GeneDx RCV000172413 SCV001825341 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000172413 SCV003825949 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing

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