ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11515C>G (p.Leu3839Val)

dbSNP: rs1553942156
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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 RCV000618468 SCV000736697 uncertain significance Cardiovascular phenotype 2016-12-29 criteria provided, single submitter clinical testing The p.L3476V variant (also known as c.10426C>G), located in coding exon 44 of the TTN gene, results from a C to G substitution at nucleotide position 10426. The leucine at codon 3476 is replaced by valine, an amino acid with highly similar properties, and is located in the I-band region of the N2-B isoform of the titin protein. This amino acid position is 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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