ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.1449C>T (p.Ala483=) (rs141617218)

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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 RCV000152526 SCV000201716 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala483Ala in exon 9 of TTN: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/7020 European Americ an chromosomes by the NHLBI Exome Sequencing Project ( du/EVS; dbSNP rs141617218). Ala483Ala in exon 9 of TTN (rs141617218; allele fre quency = 3/7020) **
GeneDx RCV000152526 SCV000535205 likely benign not specified 2016-12-20 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 RCV000727211 SCV000706641 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV001454113 SCV001657825 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-06-16 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000727211 SCV001932376 likely benign not provided no assertion criteria provided clinical testing

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