ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) (rs199889888)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152509 SCV000201685 uncertain significance not specified 2013-11-11 criteria provided, single submitter clinical testing The Gly1305Trp variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational analyses (bioche mical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) sugge st that the Gly1305Trp variant may impact the protein, though this information i s not predictive enough to determine pathogenicity. Additional information is ne eded to fully assess the clinical significance of the Gly1305Trp variant
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725635 SCV000701054 uncertain significance not provided 2016-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000152509 SCV000728635 likely benign not specified 2017-04-21 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.
Invitae RCV000643675 SCV000765362 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770150 SCV000901576 uncertain significance Cardiomyopathy 2016-07-21 criteria provided, single submitter clinical testing

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