ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58564G>A (p.Val19522Met)

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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 RCV002320641 SCV002607630 uncertain significance Cardiovascular phenotype 2018-05-03 criteria provided, single submitter clinical testing The p.V10457M variant (also known as c.31369G>A), located in coding exon 125 of the TTN gene, results from a G to A substitution at nucleotide position 31369. The valine at codon 10457 is replaced by methionine, an amino acid with highly 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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