ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn) (rs376679796)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040751 SCV000064442 likely benign not specified 2013-03-06 criteria provided, single submitter clinical testing Asp26936Asn in exon 280 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species. Multiple mammals, inclu ding mouse, bushbaby, and horse, have an asparagine (Asp) at this position despi te high nearby amino acid conservation. In addition, computational analyses (Ali gnGVGD, PolyPhen2, SIFT) do not suggest a high likelihood of impact to the prote in. This variant has been identified in 1/8260 European American chromosomes fro m a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washin gton.edu/EVS).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000040751 SCV000335636 likely benign not specified 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618971 SCV000736514 likely benign Cardiovascular phenotype 2016-02-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Invitae RCV000643094 SCV000764781 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing

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