ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.369+2T>C

dbSNP: rs1057518693
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002521463 SCV003443823 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the COL9A3 gene. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however it is unknown whether splice variants in this region will result in a loss of function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 374320). This variant has not been reported in the literature in individuals affected with COL9A3-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV000415238 SCV000328799 pathogenic Epiphyseal dysplasia, multiple, 3 2014-09-23 no assertion criteria provided clinical testing This variant affects the canonical splice site and therefore is categorized as deleterious. It was reported in our lab in an individual with features which include intellectual disability, hearing loss, vision loss, hypertonic/spasticity and joint contractures. A pathogenic variant in PLP1 (NM_001128834.1, c.1A>G) was also reported in this individual. Both were inherited from a mother with neuropathy.

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.