ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83487T>G (p.Asn27829Lys)

gnomAD frequency: 0.00001  dbSNP: rs374322635
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170781 SCV001333388 likely benign Cardiomyopathy 2022-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348592 SCV002651539 uncertain significance Cardiovascular phenotype 2020-09-04 criteria provided, single submitter clinical testing The p.N18764K variant (also known as c.56292T>G), located in coding exon 153 of the TTN gene, results from a T to G substitution at nucleotide position 56292. The asparagine at codon 18764 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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