ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.25569C>T (p.Ala8523=) (rs375022009)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000154971 SCV000169645 benign not specified 2014-04-11 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154971 SCV000204653 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ala7279Ala in exon 85 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/3180 African Ameri can chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724192 SCV000232858 uncertain significance not provided 2015-09-22 criteria provided, single submitter clinical testing
Invitae RCV001089031 SCV000642875 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-11 criteria provided, single submitter clinical testing

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