ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8314G>A (p.Val2772Met) (rs143035953)

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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 RCV000620190 SCV000737190 likely benign Cardiovascular phenotype 2018-02-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172725 SCV000055099 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155010 SCV000229801 likely benign not specified 2014-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000155010 SCV000238042 likely benign not specified 2018-01-23 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 RCV000477434 SCV000555643 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155010 SCV000204692 benign not specified 2015-07-29 criteria provided, single submitter clinical testing p.Val2772Met in exon 35 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (36/10404) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs143035953). In addition, there is a lack of conservation across species, including mammals. Of note, myotis bat, microbat, big brown bat, and medaka, ha ve a Methionine (Met) at this position.

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