ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)

gnomAD frequency: 0.00044  dbSNP: rs35116188
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000585218 SCV000530489 uncertain significance not provided 2023-08-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
CeGaT Center for Human Genetics Tuebingen RCV000585218 SCV000693210 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000419219 SCV000711270 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing The p.Pro236Ser variant in COL11A2 has not been previously reported in individua ls with hearing loss, but has been identified in 0.1% (38/66740) of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs35116188). Although this variant has been seen in the general popula tion, its frequency is not high enough to rule out a pathogenic role. Proline (P ro) at position 236 is not conserved in mammals or evolutionarily distant specie s and one mammal (Bushbaby) carries a Serine (Ser), raising the possibility that this change may be tolerated. Additional computational prediction tools do not provide strong support for or against an impact to the protein. In summary, th e clinical significance of the p.Pro236Ser variant is uncertain.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659330 SCV000781141 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000585218 SCV000859776 uncertain significance not provided 2018-03-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000585218 SCV000885208 uncertain significance not provided 2017-08-25 criteria provided, single submitter clinical testing The p.Pro236Ser variant (rs35116188) has not been reported in the medical literature nor has it been previously identified in our laboratory. The p.Pro236Ser variant is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.074% in the non-Finnish European population (identified in 94 out of 126,692 chromosomes), and is classified as a variant of uncertain significance in ClinVar (Variant ID: 388231). The proline at codon 236 is highly conserved considering 11 species up to giant panda (Alamut software v2.9), but computational analyses predict conflicting effects of this variant on protein structure/function (SIFT: tolerated, PolyPhen2: benign, MutationTaster: disease causing). Based on the available information, the clinical significance of the p.Pro236Ser variant cannot be determined with certainty.
Invitae RCV000585218 SCV002322435 likely benign not provided 2024-01-29 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.