ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) (rs139790668)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724240 SCV000225465 uncertain significance not provided 2014-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000214411 SCV000237070 likely benign not specified 2017-12-28 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214411 SCV000272623 uncertain significance not specified 2015-01-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val9359Ile in TTN has not been previously reported in individuals with cardiomyopathy, but ha s been identified in 0.2% (21/9972) of African chromosomes by the Exome Aggregat ion Consortium (ExAC,; dbSNP rs139790668). Comput ational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rul e out pathogenicity. In summary, while the clinical significance of the p.Val93 59Ile variant is uncertain, its frequency suggests that it is more likely to be benign.
Invitae RCV001085372 SCV000555359 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768887 SCV000900260 uncertain significance Cardiomyopathy 2016-06-24 criteria provided, single submitter clinical testing

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