ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96807A>T (p.Glu32269Asp)

dbSNP: rs876658095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215701 SCV000272806 uncertain significance not specified 2015-10-30 criteria provided, single submitter clinical testing The p.Glu29701Asp variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that the p.Glu29701Asp variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Glu29701Asp variant is uncertain.
Ambry Genetics RCV002365161 SCV002664386 uncertain significance Cardiovascular phenotype 2019-05-30 criteria provided, single submitter clinical testing The p.E23204D variant (also known as c.69612A>T), located in coding exon 174 of the TTN gene, results from an A to T substitution at nucleotide position 69612. The glutamic acid at codon 23204 is replaced by aspartic acid, 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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