ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) (rs200726948)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000248255 SCV000319102 uncertain significance Cardiovascular phenotype 2013-11-11 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172292 SCV000054965 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172292 SCV000979305 likely benign not provided 2018-04-10 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.
Illumina Clinical Services Laboratory,Illumina RCV000367338 SCV000422395 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277719 SCV000422396 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332764 SCV000422397 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382596 SCV000422398 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269467 SCV000422399 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328753 SCV000422400 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000530284 SCV000643503 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040464 SCV000064155 uncertain significance not specified 2012-10-24 criteria provided, single submitter clinical testing The Arg18550Trp variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 1/569 ch romosomes from the ClinSeq project listed in dbSNP (rs200726948). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg18550Trp variant may impact the protein, though t his information is not predictive enough to determine pathogenicity. Additional studies are needed to fully assess its clinical significance.

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