ClinVar Miner

Submissions for variant NM_001851.5(COL9A1):c.353G>A (p.Arg118Gln) (rs143848379)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000732119 SCV000618166 uncertain significance not provided 2018-11-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL9A1 gene. The R118Q variant has not been published as pathogenic or been reported as benign to our knowledge. The R118Q variant has been observed in approximately 0.2% of alleles from individuals of African American ancestry in large population databases (Lek et al., 2016). Nevertheless, the R118Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Furthermore, 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732119 SCV000860026 uncertain significance not provided 2018-03-20 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764655 SCV000895778 uncertain significance Multiple epiphyseal dysplasia 6; Stickler syndrome, type 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000732119 SCV001061797 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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