ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) (rs55857742)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172702 SCV000051478 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041110 SCV000064801 benign not specified 2015-02-25 criteria provided, single submitter clinical testing p.Gly4382Asp in exon 45B of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 2.4% (392/16508) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs55857742).
GeneDx RCV000041110 SCV000238187 benign not specified 2016-02-08 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.
Invitae RCV001079484 SCV000286444 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041110 SCV000334889 benign not specified 2015-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620901 SCV000740274 benign Cardiovascular phenotype 2016-01-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852921 SCV000995663 benign Primary dilated cardiomyopathy 2017-02-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282652 SCV001157552 benign none provided 2020-03-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000041110 SCV001474963 benign not specified 2019-11-05 criteria provided, single submitter clinical testing

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