ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.159C>T (p.Gly53=)

dbSNP: rs1367693905
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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 RCV000769149 SCV000900523 uncertain significance Cardiomyopathy 2017-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303237 SCV004005972 uncertain significance Cardiovascular phenotype 2023-05-05 criteria provided, single submitter clinical testing The c.159C>T variant (also known as p.G53G), located in coding exon 2 of the TTN gene, results from a C to T substitution at nucleotide position 159. This nucleotide substitution does not change the glycine at codon 53. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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