ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys)

gnomAD frequency: 0.00001  dbSNP: rs377762626
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Total submissions: 4
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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 RCV000040010 SCV000063701 uncertain significance not specified 2012-02-14 criteria provided, single submitter clinical testing The Glu6992Lys variant (TTN) has been identified in 1/6626 European American chr omosomes by the NHLBI Exome Sequencing Project in a broad population (http://evs .gs.washington.edu/EVS). Computational analyses (biochemical amino acid properti es, conservation, AlignGVGD, and SIFT) do not provide strong support for or agai nst an impact to the protein. Additional information is needed to fully assess t he clinical significance of the Glu6992Lys variant.
Invitae RCV000476628 SCV000543020 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713996 SCV000844653 uncertain significance not provided 2018-05-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000713996 SCV003822152 uncertain significance not provided 2020-08-25 criteria provided, single submitter clinical testing

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