ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)

dbSNP: rs184606223
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000910558 SCV001055428 likely benign not provided 2023-12-10 criteria provided, single submitter clinical testing
Mendelics RCV000986392 SCV001135387 uncertain significance Fibrochondrogenesis 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000910558 SCV001789983 uncertain significance not provided 2023-07-14 criteria provided, single submitter clinical testing Has been published in association with early-onset sensorineural hearing loss and in a patient with multiple congential anomalies (Miyagawa et al., 2013; Yang et al., 2013; Wang et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 33502061, 23767834, 32112773, 23967202)
Revvity Omics, Revvity RCV000910558 SCV003831156 uncertain significance not provided 2020-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003392688 SCV004120684 uncertain significance COL11A1-related condition 2023-08-03 criteria provided, single submitter clinical testing The COL11A1 c.560C>T variant is predicted to result in the amino acid substitution p.Thr187Met. This variant was reported in an individual with early onset hearing loss (Table S2, Miyagawa. 2013. PubMed ID: 23967202) and in the compound heterozygous state along with another potentially disease causing variant in a patient with multiple congenital anomalies (Table S2, Wang. 2021. PubMed ID: 33502061). This variant is reported in 0.38% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-103540265-G-A), which is likely too high to be a fully penetrant disease causing variant for autosomal dominant disease in this gene. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.