ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64682G>T (p.Gly21561Val)

gnomAD frequency: 0.00001  dbSNP: rs111829923
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154932 SCV000204614 uncertain significance not specified 2015-11-25 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV002345504 SCV002621968 uncertain significance Cardiovascular phenotype 2020-09-16 criteria provided, single submitter clinical testing The p.G12496V variant (also known as c.37487G>T), located in coding exon 137 of the TTN gene, results from a G to T substitution at nucleotide position 37487. The glycine at codon 12496 is replaced by valine, an amino acid with dissimilar 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.

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