ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) (rs72648227)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618830 SCV000735529 likely benign Cardiovascular phenotype 2018-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Subpopulation frequency in support of benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172625 SCV000051285 likely benign not provided 2013-06-24 criteria provided, single submitter research
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000040733 SCV000297083 uncertain significance not specified 2015-09-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040733 SCV000334280 likely benign not specified 2015-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000040733 SCV000237679 likely benign not specified 2017-06-20 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 RCV000231979 SCV000286886 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040733 SCV000064424 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing The Pro26570Thr variant in TTN has been identified by our laboratory in 1 indivi dual with HCM and 2 individuals with DCM. This variant has also been identified in 0.2% (4/2178) of chromosomes of various ethnicities by the 1000 Genomes Proje ct (dbSNP rs72648227). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summar y, the clinical significance of the Pro26570Thr variant is uncertain.

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