ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) (rs199505541)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246520 SCV000317427 uncertain significance Cardiovascular phenotype 2012-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000152190 SCV000729205 likely benign not specified 2018-02-02 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 RCV000470539 SCV000542490 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152190 SCV000200931 uncertain significance not specified 2015-03-05 criteria provided, single submitter clinical testing The p.Glu27823Asp variant in TTN has been reported in 1 individual with HCM (Mui rhead 2013; conference presentation), and has been identified by our laboratory in 2 Ashkenazi Jewish individuals with HCM. This variant has been identified in 41/66632 of European chromosomes by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org; dbSNP rs199505541). Computational prediction tools a nd conservation analysis suggest that this variant may impact the protein, thoug h this information is not predictive enough to determine pathogenicity. In summa ry, the clinical significance of the p.Glu27823Asp variant is uncertain.

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