ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) (rs72650034)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241592 SCV000318594 uncertain significance Cardiovascular phenotype 2013-05-07 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000154080 SCV000055029 likely benign not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770062 SCV000901488 likely benign Cardiomyopathy 2017-09-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154080 SCV000203723 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000040152 SCV000237091 likely benign not specified 2017-09-22 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 RCV000230773 SCV000286585 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040152 SCV000063843 likely benign not specified 2015-03-12 criteria provided, single submitter clinical testing p.Arg9774Gln in exon 132 of TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 4 primates (rhesus, crab-eating macaque, baboon, and green monkey) have a glutamine (Gln) at this position despite high nearby amino acid conservation. Ad ditional computational prediction tools do not suggest a high likelihood of impa ct to the protein. This variant has been identified in 0.1% (70/66710) of Europe an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs72650034).

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