ClinVar Miner

Submissions for variant NM_001001430.2(TNNT2):c.690-6G>A (rs113471285)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000036613 SCV000514926 benign not specified 2015-05-08 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 RCV000646081 SCV000767838 likely benign Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2017-09-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036613 SCV000060268 uncertain significance not specified 2014-07-31 criteria provided, single submitter clinical testing The 690-6G>A variant in TNNT2 has been identified by our laboratory in 1 Caucasian individual with DCM (Morales 2010), who also carried a second TNNT2 variant on the same copy of the gene (in cis). This variant was absent from large population studies, but has been listed in dbSNP without frequency information (dbSNP rs113471285). This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the 690-6G>A variant is uncertain.

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