ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99955G>A (p.Gly33319Arg)

gnomAD frequency: 0.00001  dbSNP: rs72648279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993521 SCV001146560 uncertain significance not provided 2019-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382226 SCV002672750 uncertain significance Cardiovascular phenotype 2019-10-17 criteria provided, single submitter clinical testing The p.G24254R variant (also known as c.72760G>A), located in coding exon 183 of the TTN gene, results from a G to A substitution at nucleotide position 72760. The glycine at codon 24254 is replaced by arginine, 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.
Revvity Omics, Revvity RCV000993521 SCV003824204 uncertain significance not provided 2019-08-31 criteria provided, single submitter clinical testing

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