ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53545G>C (p.Val17849Leu)

gnomAD frequency: 0.00001  dbSNP: rs746831431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596874 SCV000704188 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438536 SCV002744749 uncertain significance Cardiovascular phenotype 2019-09-26 criteria provided, single submitter clinical testing The p.V8784L variant (also known as c.26350G>C), located in coding exon 105 of the TTN gene, results from a G to C substitution at nucleotide position 26350. The valine at codon 8784 is replaced by leucine, an amino acid with highly similar properties. 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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