ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) (rs78046647)

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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 RCV000177980 SCV000229947 likely benign not specified 2017-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000767038 SCV000568779 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL11A1 gene. The P974Q variant in the COL11A1 gene has been reported previously in a family segregating with an autosomal dominant form of osteoarthritis and was found to segregate with the disease in all relatives evaluated; however, there were also family members heterozygous for the P974Q variant whose affected status was unknown (Jakkula et al., 2005). The P974Q 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. This substitution occurs within the triple-helical region, at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, the P974Q variant is observed in 214/66384 (0.32%) alleles from individuals of non-Finnish European background, including one homozygote, in the ExAC data set (Lek et al., 2016), which is greater than expected for this disorder. Finally, no missense variants in nearby residues have been reported in HGMD in association with Stickler syndrome (Stenson et al., 2014).
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680459 SCV000807834 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000767038 SCV001052276 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000767038 SCV001143577 benign not provided 2019-07-12 criteria provided, single submitter clinical testing

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