ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99982G>A (p.Val33328Met)

gnomAD frequency: 0.00011  dbSNP: rs372302484
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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) RCV000154032 SCV000203665 uncertain significance not provided 2017-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000154032 SCV001770202 likely benign not provided 2019-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381486 SCV002672754 uncertain significance Cardiovascular phenotype 2019-01-09 criteria provided, single submitter clinical testing The p.V24263M variant (also known as c.72787G>A), located in coding exon 183 of the TTN gene, results from a G to A substitution at nucleotide position 72787. The valine at codon 24263 is replaced by methionine, an amino acid with highly similar 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 Omics RCV000154032 SCV003819136 uncertain significance not provided 2020-10-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226218 SCV003923246 uncertain significance not specified 2023-03-06 criteria provided, single submitter clinical testing

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