ClinVar Miner

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

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Total submissions: 7
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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, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000404285 SCV000346593 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297991 SCV000346594 likely benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
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 RCV000680462 SCV000807837 likely benign Connective tissue disorder 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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