ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16113T>C (p.Asn5371=) (rs143845692)

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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 RCV000245367 SCV000317959 likely benign Cardiovascular phenotype 2013-01-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039883 SCV000859999 likely benign not specified 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000039883 SCV000721839 likely benign not specified 2017-08-07 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 RCV000367309 SCV000424622 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277429 SCV000424623 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326656 SCV000424624 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381306 SCV000424625 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272671 SCV000424626 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327716 SCV000424627 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469089 SCV000555622 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-07-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039883 SCV000063574 likely benign not specified 2011-12-19 criteria provided, single submitter clinical testing Asn4127Asn in 52 of TTN: This variant is not expected to have clinical significa nce because it does not alter an amino acid residue, is not located within the s plice consensus sequence. It has been reported in 1/6693 European American chro mosomes and 1/3179 African American chromosomes by the NHBLI Exome sequencing pr oject (rs143845692; note: this cohort contained individuals with heart disease, http://evs.gs.washington.edu/EVS/). Asn4127Asn in 52 of TTN (rs143845692; NHBLI Exome Seq Project; allele frequency = 0.01-0.03%)

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