ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser)

gnomAD frequency: 0.00003  dbSNP: rs1024823449
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261701 SCV002541917 uncertain significance not provided 2021-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002373058 SCV002667984 uncertain significance Cardiovascular phenotype 2020-02-28 criteria provided, single submitter clinical testing The p.P23247S variant (also known as c.69739C>T), located in coding exon 175 of the TTN gene, results from a C to T substitution at nucleotide position 69739. The proline at codon 23247 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, serine 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.
Fulgent Genetics, Fulgent Genetics RCV002481069 SCV002780264 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-08-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002261701 SCV003826667 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.