ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78092A>G (p.Glu26031Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002335916 SCV002640518 uncertain significance Cardiovascular phenotype 2020-07-22 criteria provided, single submitter clinical testing The p.E16966G variant (also known as c.50897A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 50897. The glutamic acid at codon 16966 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction 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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