ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107438A>G (p.Gln35813Arg)

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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 RCV002419279 SCV002679836 uncertain significance Cardiovascular phenotype 2018-10-30 criteria provided, single submitter clinical testing The p.Q26748R variant (also known as c.80243A>G), located in coding exon 189 of the TTN gene, results from an A to G substitution at nucleotide position 80243. The glutamine at codon 26748 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well 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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