ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92714G>T (p.Gly30905Val)

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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 RCV002364375 SCV002661283 uncertain significance Cardiovascular phenotype 2019-04-04 criteria provided, single submitter clinical testing The p.G21840V variant (also known as c.65519G>T), located in coding exon 166 of the TTN gene, results from a G to T substitution at nucleotide position 65519. The glycine at codon 21840 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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