ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34241_34243AAG[2] (p.Glu11416del) (rs397517549)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040171 SCV000063862 likely benign not specified 2014-09-24 criteria provided, single submitter clinical testing p.Glu10172del in exon 143 of TTN: This variant is a deletion of 1 amino acid at position 10172 in a string of glutamic acid residues and is not predicted to alt er the protein reading-frame. This deletion is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, 3 mammals (gorilla, alpaca, and camel) have a deletion at this position desp ite high nearby amino acid conservation.
Illumina Clinical Services Laboratory,Illumina RCV000358341 SCV000423577 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265995 SCV000423578 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304720 SCV000423579 uncertain significance Distal myopathy Markesbery-Griggs type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361578 SCV000423580 uncertain significance Myopathy, early-onset, with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269293 SCV000423581 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000326725 SCV000423582 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461729 SCV000555246 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000040171 SCV000566077 benign not specified 2016-03-31 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.
Blueprint Genetics RCV000157573 SCV000207319 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-02-11 no assertion criteria provided clinical testing

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