ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44840C>A (p.Pro14947Gln)

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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 RCV002401700 SCV002713338 uncertain significance Cardiovascular phenotype 2018-11-26 criteria provided, single submitter clinical testing The p.P5882Q variant (also known as c.17645C>A), located in coding exon 70 of the TTN gene, results from a C to A substitution at nucleotide position 17645. The proline at codon 5882 is replaced by glutamine, 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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