ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54467A>G (p.Asp18156Gly)

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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 RCV002431334 SCV002743624 uncertain significance Cardiovascular phenotype 2019-04-12 criteria provided, single submitter clinical testing The p.D9091G variant (also known as c.27272A>G), located in coding exon 109 of the TTN gene, results from an A to G substitution at nucleotide position 27272. The aspartic acid at codon 9091 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be benign 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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