ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) (rs375476174)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000360126 SCV000357528 likely benign Epiphyseal dysplasia, multiple, 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.
GeneDx RCV000498672 SCV000590186 uncertain significance not provided 2019-01-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL9A2 gene. The R375G variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 11/8630 (0.13%) alleles from individuals of European ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). This substitution occurs at a position that is not conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Nevertheless, the R375G 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.
GenomeConnect, ClinGen RCV000509212 SCV000607219 not provided Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type 5 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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