ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) (rs140760859)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172478 SCV000051344 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155013 SCV000204695 uncertain significance not specified 2013-04-02 criteria provided, single submitter clinical testing The Ala1385Thr variant in TTN has been identified by our laboratory in 1 infant with DCM (LMM unpublished data). This variant has been identified in 1/4406 Afri can American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS/) and in 1/1324 European chromosomes by the ClinSeq Project (db SNP rs140760859). Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully asse ss the clinical significance of this variant.
Invitae RCV000464939 SCV000542704 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000155013 SCV000725614 likely benign not specified 2017-12-05 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769134 SCV000900508 uncertain significance Cardiomyopathy 2017-01-23 criteria provided, single submitter clinical testing

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