ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys)

gnomAD frequency: 0.00004  dbSNP: rs200651247
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596779 SCV000701297 uncertain significance not provided 2017-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000596779 SCV001786071 likely benign not provided 2019-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282251 SCV002571832 uncertain significance not specified 2022-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367997 SCV002658023 uncertain significance Cardiovascular phenotype 2018-12-12 criteria provided, single submitter clinical testing The p.E21185K variant (also known as c.63553G>A), located in coding exon 162 of the TTN gene, results from a G to A substitution at nucleotide position 63553. The glutamic acid at codon 21185 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other 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 RCV000596779 SCV003819207 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing

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