ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102845C>A (p.Thr34282Asn)

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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 RCV002394041 SCV002670892 uncertain significance Cardiovascular phenotype 2018-01-04 criteria provided, single submitter clinical testing The p.T25217N variant (also known as c.75650C>A), located in coding exon 185 of the TTN gene, results from a C to A substitution at nucleotide position 75650. The threonine at codon 25217 is replaced by asparagine, 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 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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