ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) (rs371075036)

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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 RCV000622179 SCV000735342 likely benign Cardiovascular phenotype 2016-03-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040954 SCV000203657 likely benign not specified 2016-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000040954 SCV000713916 likely benign not specified 2017-05-19 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 RCV000386216 SCV000420031 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291115 SCV000420032 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346067 SCV000420033 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406153 SCV000420034 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306236 SCV000420035 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342687 SCV000420036 uncertain significance Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000474673 SCV000555408 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040954 SCV000064645 benign not specified 2016-06-10 criteria provided, single submitter clinical testing p.Ala32493Ala in exon 307 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and has been identi fied in 0.3% (37/9800) of African chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs371075036).

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