ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83785G>A (p.Gly27929Arg)

gnomAD frequency: 0.00002  dbSNP: rs786205297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172228 SCV000051121 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Ambry Genetics RCV000618177 SCV000735792 uncertain significance Cardiovascular phenotype 2017-03-02 criteria provided, single submitter clinical testing The p.G18864R variant (also known as c.56590G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 56590. The glycine at codon 18864 is replaced by arginine, an amino acid with dissimilar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). 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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