ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) (rs144884147)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724098 SCV000232619 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000180223 SCV000570368 uncertain significance not specified 2017-02-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A1 gene. The E341Q variant has been reported in one Finnish individual with early-onset osteoarthritis in both hip joints at 40 years of age (Jakkula et al., 2005). This individual's mother and maternal grandmother were also reported to have early-onset osteoarthritis. However, they were not available for molecular analysis. Of note, the presence or absence of further evaluation for additional features associated with connective tissue disease was not described. The E341Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In addition, the majority of in silico analysis (2 out of 3) predicts this variant is probably damaging to the protein structure/function. Nevertheless, the Exome Aggregation Consortium reports E341Q was observed in 80/66,318 (0.12%) alleles from individuals of European (Non-Finnish) background and 4/6610 (0.06%) alleles from individuals of Finnish background.
Illumina Clinical Services Laboratory,Illumina RCV000401943 SCV000346550 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302249 SCV000346551 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342973 SCV000346552 likely benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing

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