Submissions for variant NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)

gnomAD frequency: 0.00103  dbSNP: rs146555195

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155065	SCV000204749	likely benign	not specified	2015-01-23	criteria provided, single submitter	clinical testing	p.Arg1667His in exon 65 of COL11A2: This variant is not expected to have clinica l significance because it has been identified in 0.18% (111/62708) of European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs146555195). In addition, it has been seen by our laboratory in two individuals with hearing loss, neither of whom carried a clinically significant COL11A2 variant on the other allele and both of whom had an alternate genetic e xplanation for their hearing loss.
Eurofins Ntd Llc (ga)	RCV000155065	SCV000231938	likely benign	not specified	2015-03-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000271332	SCV000462207	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.
Illumina Laboratory Services, Illumina	RCV000326882	SCV000462208	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	RCV000381519	SCV000462209	likely benign	Stickler Syndrome, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000277747	SCV000462210	likely benign	Otospondylomegaepiphyseal dysplasia, autosomal dominant	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000427587	SCV000511692	likely benign	not provided	2017-01-24	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000155065	SCV000714263	benign	not specified	2017-11-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen	RCV000427587	SCV000780852	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	COL11A2: BP4, BS2
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680464	SCV000807839	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000427587	SCV001720807	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Center of Genomic medicine, Geneva, University Hospital of Geneva	RCV001804866	SCV001745836	uncertain significance	Autosomal recessive nonsyndromic hearing loss 53	2018-08-06	criteria provided, single submitter	clinical testing	This variant was identified in compound heterozygosity with a second variant in COL11A2 in a female patient with prelingual bilateral moderate hearing loss.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000427587	SCV001797576	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000427587	SCV001963928	likely benign	not provided		no assertion criteria provided	clinical testing