ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) (rs549604128)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223295 SCV000272602 uncertain significance not specified 2015-05-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr7058Lys va riant in TTN has not been previously reported in individuals with cardiomyopathy , but has been identified in 0.1% (8/8604) of East Asian chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Computational p rediction tools and conservation analysis suggest that this variant may not impa ct the protein, though this information is not predictive enough to rule out pat hogenicity. In summary, while the clinical significance of the p.Thr7058Lys vari ant is uncertain, its frequency suggests that it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV000259426 SCV000424142 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317070 SCV000424143 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361848 SCV000424144 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264760 SCV000424145 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322196 SCV000424146 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383733 SCV000424147 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764343 SCV000895362 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J; Distal myopathy Markesbery-Griggs type; Myopathy, myofibrillar, 9, with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Familial hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769054 SCV000900427 uncertain significance Cardiomyopathy 2016-11-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993405 SCV001146347 likely benign not provided 2018-09-12 criteria provided, single submitter clinical testing

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