ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys) (rs201272728)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621827 SCV000736653 likely benign Cardiovascular phenotype 2018-02-15 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154907 SCV000228555 likely benign not specified 2015-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000154907 SCV000237664 likely benign not specified 2017-11-15 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 RCV000543680 SCV000643799 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154907 SCV000204589 likely benign not specified 2014-04-04 criteria provided, single submitter clinical testing Gln25938Lys in exon 275 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, two bat species, hedgehog, and multiple birds, reptiles, and fish have a ly sine (Lys) at this position despite high nearby amino acid conservation. In addi tion, it has been identified in 1/8264 European American chromosomes and 2/3890 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.g; dbSNP rs201272728).

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