ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) (rs141978499)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000351685 SCV000346592 likely benign Stickler syndrome type 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 Clinical Services Laboratory,Illumina RCV000404285 SCV000346593 uncertain significance Fibrochondrogenesis 1 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000430222 SCV000530367 uncertain significance not specified 2017-10-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A1 gene. The G110R variant has not been published as pathogenic or been reported as benign to our knowledge. The G110R variant is observed in 199/125774 (0.16%) European (non-Finnish) alleles in large population cohorts (Lek et al., 2016). The G110R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with a COL11A1-related disorder (Stenson et al., 2014). Therefore, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513856 SCV000611035 likely benign not provided 2017-06-14 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680462 SCV000807837 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513856 SCV001147361 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing

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