ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) (rs72648235)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724710 SCV000228666 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
GeneDx RCV000219348 SCV000237704 uncertain significance not specified 2016-10-07 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM,DCM-CRDM panel(s).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219348 SCV000272790 uncertain significance not specified 2015-04-03 criteria provided, single submitter clinical testing The p.Gly26994Asp variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 8/11566 Latino chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs7 2648235). Computational prediction tools and conservation analysis do not provid e strong support for or against an impact to the protein. In summary, the clinic al significance of the p.Gly26994Asp variant is uncertain.
Invitae RCV000542576 SCV000643847 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000724710 SCV001146524 likely benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293052 SCV001434032 uncertain significance Hypertrophic cardiomyopathy criteria provided, single submitter research

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