ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) (rs68080670)

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Total submissions: 14
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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 RCV000040944 SCV000051758 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040944 SCV000064635 benign not specified 2012-04-10 criteria provided, single submitter clinical testing
GeneDx RCV000040944 SCV000169471 benign not specified 2017-02-22 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 RCV000231098 SCV000286405 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000040944 SCV000315643 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000244925 SCV000318088 benign Cardiovascular phenotype 2013-05-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336579 SCV000420073 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402951 SCV000420074 likely benign Hereditary myopathy with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296735 SCV000420075 likely benign Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351463 SCV000420076 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403378 SCV000420077 likely benign Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311858 SCV000420078 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000040944 SCV000153434 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000677191 SCV000803296 likely pathogenic Limb-girdle muscular dystrophy, type 2J 2018-07-18 no assertion criteria provided clinical testing The observed variant c.104576G>A (p.Arg34859Gln) has a minor allele frequency of 0.0036 and 0.0130 in 1000 Genomes and ExAC databases respectively. The in silico prediction of the given variant is disease causing by MutationTaster2, and damaging by SIFT.

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