ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79562G>A (p.Gly26521Glu)

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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 RCV002340872 SCV002645352 uncertain significance Cardiovascular phenotype 2019-12-10 criteria provided, single submitter clinical testing The p.G17456E variant (also known as c.52367G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 52367. The glycine at codon 17456 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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