ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67354C>T (p.Pro22452Ser)

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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 RCV002359441 SCV002622208 uncertain significance Cardiovascular phenotype 2018-12-26 criteria provided, single submitter clinical testing The p.P13387S variant (also known as c.40159C>T), located in coding exon 146 of the TTN gene, results from a C to T substitution at nucleotide position 40159. The proline at codon 13387 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging and unknown by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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