ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49739G>A (p.Gly16580Asp)

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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 RCV002443593 SCV002735246 uncertain significance Cardiovascular phenotype 2019-05-02 criteria provided, single submitter clinical testing The p.G7515D variant (also known as c.22544G>A), located in coding exon 92 of the TTN gene, results from a G to A substitution at nucleotide position 22544. The glycine at codon 7515 is replaced by aspartic 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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