ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) (rs200155485)

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Total submissions: 11
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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 RCV000172283 SCV000054958 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152252 SCV000201068 uncertain significance not specified 2015-10-15 criteria provided, single submitter clinical testing The p.Arg19348Trp variant in TTN has been identified by our laboratory in 1 indi vidual with HCM. This variant has been identified in 9/63072 European chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs200155485). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg19348Trp variant is uncertain.
Illumina Clinical Services Laboratory,Illumina RCV000408391 SCV000422221 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298339 SCV000422222 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353195 SCV000422223 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404677 SCV000422224 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312931 SCV000422225 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367487 SCV000422226 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000470625 SCV000542693 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-12 criteria provided, single submitter clinical testing
GeneDx RCV000152252 SCV000616906 uncertain significance not specified 2017-08-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TTN gene. The R20275W variant (published as R19348W due to the use of alternate nomenclature) has been reported in as a variant of uncertain significance in one individual from a cohort of individuals not selected for cardiomyopathy, arrhythmia, or family history of sudden cardiac death, who underwent exome sequencing (Ng et al., 2013). Nevertheless, the R20275W variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R20275W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172283 SCV000855151 uncertain significance not provided 2018-03-14 criteria provided, single submitter clinical testing

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