ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95993A>C (p.Glu31998Ala)

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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 RCV002362208 SCV002666110 uncertain significance Cardiovascular phenotype 2020-03-25 criteria provided, single submitter clinical testing The p.E22933A variant (also known as c.68798A>C), located in coding exon 172 of the TTN gene, results from an A to C substitution at nucleotide position 68798. The glutamic acid at codon 22933 is replaced by alanine, an amino acid with dissimilar 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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