Submissions for variant NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)

gnomAD frequency: 0.00031  dbSNP: rs147927477

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000766588	SCV000576635	uncertain significance	not provided	2024-12-26	criteria provided, single submitter	clinical testing	Has not been previously published in association with a COL11A2-related disorder to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34226706)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000489315	SCV000711005	uncertain significance	not specified	2017-07-27	criteria provided, single submitter	clinical testing	The p.Arg852Gln variant in COL11A2 has not been previously reported in individua ls with hearing loss, but has been identified in 46/ 126614 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; d bSNP rs147927477). Although this variant has been seen in the general population , its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Arg852Gln variant is un certain.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659339	SCV000781150	uncertain significance	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000766588	SCV001154715	uncertain significance	not provided	2018-10-01	criteria provided, single submitter	clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center	RCV001375473	SCV001572146	uncertain significance	Hearing impairment	2021-04-12	criteria provided, single submitter	clinical testing	PM2_Moderate, PP3_Supporting
Labcorp Genetics (formerly Invitae), Labcorp	RCV000766588	SCV001663380	likely benign	not provided	2025-01-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000766588	SCV005875506	uncertain significance	not provided	2024-06-03	criteria provided, single submitter	clinical testing	The COL11A2 c.2555G>A; p.Arg852Gln variant (rs147927477), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 426242). This variant is found in the non-Finnish European population with an allele frequency of 0.04% (46/129,046 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.256). Due to limited information, the clinical significance of this variant is uncertain at this time.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000766588	SCV001742470	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000766588	SCV001954717	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000766588	SCV001974128	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000766588	SCV002035942	uncertain significance	not provided		no assertion criteria provided	clinical testing