ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86911G>A (p.Gly28971Arg)

gnomAD frequency: 0.00011  dbSNP: rs368921501
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558658 SCV001780653 likely benign not provided 2020-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359175 SCV002656514 uncertain significance Cardiovascular phenotype 2018-12-13 criteria provided, single submitter clinical testing The p.G19906R variant (also known as c.59716G>A), located in coding exon 154 of the TTN gene, results from a G to A substitution at nucleotide position 59716. The glycine at codon 19906 is replaced by arginine, 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001558658 SCV005413010 uncertain significance not provided 2024-03-22 criteria provided, single submitter clinical testing

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