ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=) (rs369959066)

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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 RCV000253166 SCV000318688 likely benign Cardiovascular phenotype 2013-05-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154952 SCV000339025 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000154952 SCV000520097 likely benign not specified 2017-04-21 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 RCV000228754 SCV000286653 benign 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 RCV000154952 SCV000204634 benign not specified 2016-10-07 criteria provided, single submitter clinical testing p.Tyr11758Tyr in Exon 182 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.6% (106/16500) of South Asian chromosomes, including 1 homozygote, by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs369959066).

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