ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) (rs55838839)

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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 RCV000621207 SCV000735685 benign Cardiovascular phenotype 2016-12-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000040977 SCV000615979 benign not specified 2017-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040977 SCV000333329 likely benign not specified 2015-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000040977 SCV000169489 benign not specified 2014-01-20 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.
Genetic Services Laboratory, University of Chicago RCV000040977 SCV000597631 likely benign not specified 2016-09-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364730 SCV000419899 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275025 SCV000419900 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330150 SCV000419901 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389244 SCV000419902 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295013 SCV000419903 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317386 SCV000419904 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000462969 SCV000555249 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040977 SCV000064668 likely benign not specified 2012-07-24 criteria provided, single submitter clinical testing Ser32958Ser in exon 309 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 3/569 European chr omosomes from the ClinSeq project and 1/194 Kenyan chromosomes from 1000 Genomes project (dbSNP rs55838839). Ser32958Ser in exon 309 of TTN (rs55838839; allele frequency = 3/569)

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