ClinVar Miner

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

dbSNP: rs397517549
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 Laboratory Services, Illumina RCV000358341 SCV000423577 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265995 SCV000423578 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304720 SCV000423579 uncertain significance Tibial muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361578 SCV000423580 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269293 SCV000423581 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000326725 SCV000423582 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461729 SCV000555246 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-09 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170392 SCV001332969 benign Cardiomyopathy 2018-07-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811293 SCV002049504 benign not provided 2023-10-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040171 SCV003934170 likely benign not specified 2023-05-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001811293 SCV004152476 benign not provided 2023-10-01 criteria provided, single submitter clinical testing TTN: PM4:Supporting, BS1, BS2
Blueprint Genetics RCV000157573 SCV000207319 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-02-11 no assertion criteria provided clinical testing

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