ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78123C>A (p.Asn26041Lys)

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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 RCV002335944 SCV002642961 uncertain significance Cardiovascular phenotype 2019-07-27 criteria provided, single submitter clinical testing The p.N16976K variant (also known as c.50928C>A), located in coding exon 153 of the TTN gene, results from a C to A substitution at nucleotide position 50928. The asparagine at codon 16976 is replaced by lysine, 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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