ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69050A>C (p.Glu23017Ala)

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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 RCV002327737 SCV002628502 uncertain significance Cardiovascular phenotype 2018-07-24 criteria provided, single submitter clinical testing The p.E13952A variant (also known as c.41855A>C), located in coding exon 151 of the TTN gene, results from an A to C substitution at nucleotide position 41855. The glutamic acid at codon 13952 is replaced by alanine, an amino acid with dissimilar properties. Based on data from gnomAD, the C allele has an overall frequency of approximately 0.0018% (5/276184) total alleles studied. The highest observed frequency was 0.027% (5/18648) of East Asian alleles. 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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