ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.91603G>A (p.Gly30535Ser)

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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 RCV002361798 SCV002659611 uncertain significance Cardiovascular phenotype 2020-05-18 criteria provided, single submitter clinical testing The p.G21470S variant (also known as c.64408G>A), located in coding exon 164 of the TTN gene, results from a G to A substitution at nucleotide position 64408. The glycine at codon 21470 is replaced by serine, an amino acid with 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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