ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) (rs374672630)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040313 SCV000064004 likely benign not specified 2012-01-10 criteria provided, single submitter clinical testing Gly14227Gly in exon 217 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. This variant has been identified in 2/6652 E uropean American chromosomes from a broad, though clinically unspecified populat ion (NHLBI Exome Sequencing Project; Gly1422 7Gly in exon 217 of TTN (NHLBI Exome Seq Project; 2/6652)
Invitae RCV001079702 SCV000286699 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000254431 SCV000318376 likely benign Cardiovascular phenotype 2013-03-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000040313 SCV000515140 benign not specified 2015-09-22 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727126 SCV000706004 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing

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