ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) (rs190421400)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040549 SCV000064240 uncertain significance not specified 2016-04-29 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Val20734Ile v ariant in TTN has been reported in 1 individual with HCM (LMM data). This varian t has also been identified in 0.2% (16/9674) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs190421400 ). Valine (Val) at position 20734 is not conserved in mammals (chimp carries an isoleucine (Ile)), which raises the possibility that this change may be tolerate d. Computational prediction tools suggest that the p.Val20734Ile variant may not impact the protein, though this information is not predictive enough to rule ou t pathogenicity. In summary, while the clinical significance of the p.Val20734Il e variant is uncertain, its frequency suggests that it is more likely to be beni gn.
Ambry Genetics RCV000246349 SCV000318815 likely benign Cardiovascular phenotype 2019-04-03 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV001088941 SCV000643593 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726999 SCV000704825 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000726999 SCV000730933 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000726999 SCV001920291 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000040549 SCV001929248 benign not specified no assertion criteria provided clinical testing

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