ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72074A>C (p.Glu24025Ala)

gnomAD frequency: 0.00001  dbSNP: rs886039088
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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 RCV000251193 SCV000320007 uncertain significance Cardiovascular phenotype 2015-08-20 criteria provided, single submitter clinical testing The p.E14960A variant (also known as c.44879A>C), located in coding exon 153 of the TTN gene, results from an A to C substitution at nucleotide position 44879. The glutamic acid at codon 14960 is replaced by alanine, an amino acid with dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6093 samples (12186 alleles) with coverage at this position. 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 variant remains unclear

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