ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) (rs200497615)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620414 SCV000735871 uncertain significance Cardiovascular phenotype 2017-06-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,In silico models in agreement (benign),Insufficient evidence
Athena Diagnostics Inc RCV000040986 SCV000615982 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726670 SCV000702046 uncertain significance not provided 2016-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000040986 SCV000237969 likely benign not specified 2018-01-09 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 RCV000538774 SCV000642604 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040986 SCV000064677 uncertain significance not specified 2012-03-09 criteria provided, single submitter clinical testing The Arg33084Gln variant (TTN) has been identified in 4/6812 European American ch romosomes from broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS). Arginine (Arg) at position 33084 is highly conserved i n mammals and in evolutionarily distant species, though computational analyses ( biochemical amino acid properties, conservation, AlignGVGD, and SIFT) do not pro vide strong support for or against an impact to the protein. Additional informa tion is needed to fully assess the clinical significance of this variant.

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