ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) (rs201412693)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242658 SCV000319109 uncertain significance Cardiovascular phenotype 2013-10-07 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172312 SCV000054986 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768993 SCV000900366 uncertain significance Cardiomyopathy 2017-08-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172312 SCV000332821 uncertain significance not provided 2015-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000259186 SCV000237304 likely benign not specified 2017-12-07 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 RCV000395819 SCV000422785 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312071 SCV000422786 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366773 SCV000422787 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277068 SCV000422788 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313378 SCV000422789 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354316 SCV000422790 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473935 SCV000542513 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000259186 SCV000710954 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Leu15669Pro v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.1% (141/126168) of European chromosomes by the g enome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs2 01412693). This variant has been reported in ClinVar (Variation ID: 191944) as o f uncertain significance or likely benign. Leucine (Leu) at position 15669 is no t conserved in mammals or evolutionarily distant species, supporting that a chan ge at this position may be tolerated. In summary, while the clinical significanc e of the p.Leu15669Pro variant is uncertain, these data suggest that it is more likely to be benign.

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