ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43290A>C (p.Glu14430Asp)

gnomAD frequency: 0.00002  dbSNP: rs531051064
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172335 SCV000051172 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172335 SCV000577199 uncertain significance not provided 2017-04-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TTN gene. The E12789D variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 5/8,550 (0.06%) alleles from individuals of East Asian ancestry in the Exome Aggregation Consortium (ExAC) dataset and in 1/1,008 (0.1%) alleles from individuals of East Asian ancestry in the 1000 Genomes Project (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E12789D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, this substitution occurs at a position that is conserved across species and in silico analysis suggests this variant is probably damaging to the protein structure/function.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798615 SCV002042476 likely benign Cardiomyopathy 2020-03-20 criteria provided, single submitter clinical testing

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