ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41851G>A (p.Gly13951Arg)

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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 RCV002396804 SCV002697455 uncertain significance Cardiovascular phenotype 2020-06-30 criteria provided, single submitter clinical testing The p.G4886R variant (also known as c.14656G>A), located in coding exon 54 of the TTN gene, results from a G to A substitution at nucleotide position 14656. The glycine at codon 4886 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly 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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