ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile)

gnomAD frequency: 0.00004  dbSNP: rs373881831
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723599 SCV000114390 uncertain significance not provided 2013-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000723599 SCV000237156 likely benign not provided 2021-06-18 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002390244 SCV002697973 uncertain significance Cardiovascular phenotype 2019-10-07 criteria provided, single submitter clinical testing The p.V4909I variant (also known as c.14725G>A), located in coding exon 55 of the TTN gene, results from a G to A substitution at nucleotide position 14725. The valine at codon 4909 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly 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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