ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) (rs200193877)

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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 RCV000621138 SCV000735542 likely benign Cardiovascular phenotype 2018-01-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Athena Diagnostics Inc RCV000710279 SCV000616168 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710279 SCV000703188 uncertain significance not provided 2017-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000154900 SCV000237712 likely benign not specified 2017-07-31 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.
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201380 SCV000239996 benign Abnormality of neuronal migration 2014-10-31 no assertion criteria provided clinical testing
Invitae RCV000230724 SCV000286897 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-11-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154900 SCV000204582 likely benign not specified 2013-08-02 criteria provided, single submitter clinical testing Ile27090Val in exon 282 of TTN: This variant is not expected to have clinical significance due to a lack of evolutionary conservation. Multiple mammals have a valine (Val) at this position despite high nearby amino acid conservation. This variant has also been identified in 4/8298 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs200193877).

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