ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70056A>G (p.Arg23352=) (rs75948012)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724396 SCV000228538 uncertain significance not provided 2014-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000154923 SCV000515164 likely benign not specified 2016-11-28 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 RCV000643342 SCV000765029 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154923 SCV000204605 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Arg20784Arg in exon 275 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 0.1% (2/3144) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs75948012). Arg20784Arg in exo n 275 of TTN: (allele frequency = 0.1%, 2/3144; dbSNP rs 75948012) **

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