ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58456C>G (p.Pro19486Ala)

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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 RCV002320525 SCV002607581 uncertain significance Cardiovascular phenotype 2019-09-12 criteria provided, single submitter clinical testing The p.P10421A variant (also known as c.31261C>G), located in coding exon 125 of the TTN gene, results from a C to G substitution at nucleotide position 31261. The proline at codon 10421 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is highly 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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