ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68260G>A (p.Asp22754Asn)

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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 RCV002323373 SCV002631456 uncertain significance Cardiovascular phenotype 2020-01-03 criteria provided, single submitter clinical testing The p.D13689N variant (also known as c.41065G>A), located in coding exon 148 of the TTN gene, results from a G to A substitution at nucleotide position 41065. The aspartic acid at codon 13689 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well 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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