ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) (rs377000174)

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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 RCV000213289 SCV000272694 likely benign not specified 2018-11-09 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000213289 SCV000617124 uncertain significance not specified 2017-08-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TTN gene. The A17342T variant (reported as A16415T due to the use of alternate nomenclature) has been reported in a patient with autosomal recessive muscular dystrophy who also harbors another missense variant in the TTN gene (Vasli et al., 2012). This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A17342T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this is a missense variant in a gene in which most reported pathogenic variants associated with cardiomyopathy are truncating/loss-of-function (Stenson et al., 2014).
Invitae RCV000548016 SCV000643404 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-06-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726732 SCV000702564 uncertain significance not provided 2016-10-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768979 SCV000900352 uncertain significance Cardiomyopathy 2016-06-17 criteria provided, single submitter clinical testing

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