ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67462G>A (p.Val22488Ile)

dbSNP: rs1553622498
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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 RCV000619118 SCV000735833 uncertain significance Cardiovascular phenotype 2017-04-10 criteria provided, single submitter clinical testing The p.V13423I variant (also known as c.40267G>A), located in coding exon 146 of the TTN gene, results from a G to A substitution at nucleotide position 40267. The valine at codon 13423 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well 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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