ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.43079C>A (p.Ala14360Asp)

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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 RCV002398357 SCV002705682 uncertain significance Cardiovascular phenotype 2020-03-24 criteria provided, single submitter clinical testing The p.A5295D variant (also known as c.15884C>A), located in coding exon 60 of the TTN gene, results from a C to A substitution at nucleotide position 15884. The alanine at codon 5295 is replaced by aspartic acid, an amino acid with dissimilar 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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