ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57697C>T (p.Pro19233Ser)

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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 RCV002444111 SCV002754125 uncertain significance Cardiovascular phenotype 2018-02-07 criteria provided, single submitter clinical testing The p.P10168S variant (also known as c.30502C>T), located in coding exon 122 of the TTN gene, results from a C to T substitution at nucleotide position 30502. The proline at codon 10168 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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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