ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98750C>T (p.Ser32917Phe)

gnomAD frequency: 0.00004  dbSNP: rs561932256
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
GeneDx RCV000828077 SCV000969756 likely benign not provided 2018-06-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002363184 SCV002665577 uncertain significance Cardiovascular phenotype 2019-09-12 criteria provided, single submitter clinical testing The p.S23852F variant (also known as c.71555C>T), located in coding exon 180 of the TTN gene, results from a C to T substitution at nucleotide position 71555. The serine at codon 23852 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is well 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 RCV000828077 SCV003818331 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000828077 SCV004225778 uncertain significance not provided 2022-10-20 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.