ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)

gnomAD frequency: 0.00006  dbSNP: rs201847956
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001100678 SCV001257208 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.
Invitae RCV001489852 SCV001694405 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001489852 SCV001982826 uncertain significance not provided 2021-09-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar (ClinVar Variant ID# 417900; Landrum et al., 2016)
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477829 SCV000536809 uncertain significance Epiphyseal dysplasia, multiple, 2; Intervertebral disc disorder; Stickler syndrome, type 5 2015-10-26 no assertion criteria provided research

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