ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.61142A>G (p.Lys20381Arg)

dbSNP: rs886039098
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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 RCV000249549 SCV000320038 uncertain significance Cardiovascular phenotype 2020-04-23 criteria provided, single submitter clinical testing The p.K11316R variant (also known as c.33947A>G), located in coding exon 131 of the TTN gene, results from an A to G substitution at nucleotide position 33947. The lysine at codon 11316 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, arginine is the reference amino acid in other 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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