ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72181A>G (p.Met24061Val) (rs201482015)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727728 SCV000855085 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000727728 SCV000970828 likely benign not provided 2018-06-06 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 RCV000643328 SCV000765015 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040581 SCV000064272 uncertain significance not specified 2012-12-06 criteria provided, single submitter clinical testing The Met21493Val variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 3/3720 A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; dbSNP rs201482015). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein . In summary, additional information is needed to fully assess its clinical sign ificance.

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