ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) (rs72650030)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000082390 SCV000055032 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040138 SCV000114372 likely benign not specified 2015-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000040138 SCV000237081 likely benign not specified 2017-11-27 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 RCV000476097 SCV000555268 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040138 SCV000063829 likely benign not specified 2016-04-14 criteria provided, single submitter clinical testing p.Ala9583Val in exon 127 of TTN: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, 7 mammals have a valine (Val) at this position despite high nearby amino a cid conservation. This variant has also been identified in 0.4% (138/32684) of European chromosomes including 1 homozygote by the Exome Aggregation Consortium (ExAC,; dbSNP 72650030).

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