ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51416T>A (p.Val17139Asp)

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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 RCV002459800 SCV002737395 uncertain significance Cardiovascular phenotype 2019-09-11 criteria provided, single submitter clinical testing The p.V8074D variant (also known as c.24221T>A), located in coding exon 98 of the TTN gene, results from a T to A substitution at nucleotide position 24221. The valine at codon 8074 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is not well 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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