ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr) (rs374631591)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041097 SCV000064788 uncertain significance not specified 2012-08-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile3980Thr vari ant in TTN has been identified in 1/8210 of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washingto n.edu/EVS/), though this may represent a presymptomatic individual. Computationa l analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen 2, and SIFT) suggest that the Arg1193His variant may not impact the protein, tho ugh this information is not predictive enough to rule out pathogenicity. Additio nal information is needed to fully assess the clinical significance of the Ile39 80Thr variant.
GeneDx RCV000041097 SCV000238178 likely benign not specified 2017-11-16 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725423 SCV000336835 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770111 SCV000901537 uncertain significance Cardiomyopathy 2017-08-04 criteria provided, single submitter clinical testing

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