ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80468G>C (p.Gly26823Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002346807 SCV002640784 uncertain significance Cardiovascular phenotype 2019-03-12 criteria provided, single submitter clinical testing The p.G17758A variant (also known as c.53273G>C), located in coding exon 153 of the TTN gene, results from a G to C substitution at nucleotide position 53273. The glycine at codon 17758 is replaced by alanine, 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.
GeneDx RCV005051964 SCV005686108 uncertain significance not provided 2024-07-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge

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