ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln)

gnomAD frequency: 0.00026  dbSNP: rs35765893
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214622 SCV000268898 benign not specified 2015-09-08 criteria provided, single submitter clinical testing p.Pro77Gln in exon 2 of COL11A2: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (106/16382) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs35765893).
Illumina Laboratory Services, Illumina RCV000275901 SCV000462602 likely benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000333347 SCV000462603 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385285 SCV000462604 likely benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274718 SCV000462605 likely benign Fibrochondrogenesis 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV001722140 SCV000728876 benign not provided 2018-11-26 criteria provided, single submitter clinical testing
Invitae RCV001722140 SCV002410693 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277574 SCV002566860 likely benign Connective tissue disorder 2020-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165522 SCV003871628 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The c.230C>A (p.P77Q) alteration is located in exon 2 (coding exon 2) of the COL11A2 gene. This alteration results from a C to A substitution at nucleotide position 230, causing the proline (P) at amino acid position 77 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.