ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.13751G>A (p.Gly4584Asp)

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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 RCV002371178 SCV002684219 uncertain significance Cardiovascular phenotype 2020-02-06 criteria provided, single submitter clinical testing The p.G4221D variant (also known as c.12662G>A), located in coding exon 44 of the TTN gene, results from a G to A substitution at nucleotide position 12662. The glycine at codon 4221 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is poorly 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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