ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser) (rs370589018)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493153 SCV000582025 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A1 gene. The G1120S variant has not been published as pathogenic or been reported as benign to our knowledge. This variant has been observed in approximately 0.01% of alleles from individuals of European ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G1120S 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. Additionally, 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. Furthermore, the G1120S variant affects a glycine residue in a Gly-X-Y motif in the triple helical region of the COL11A1 gene, where the majority of pathogenic missense variants occur (Stenson et al., 2014; Acke et al., 2014). Nevertheless, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, all of which would further clarify pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV000262608 SCV000346453 uncertain significance Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301099 SCV000346454 uncertain significance Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353684 SCV000346455 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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