ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.26C>G (p.Thr9Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577117 SCV005060954 uncertain significance Stickler syndrome type 1 criteria provided, single submitter clinical testing The observed missense variant c.26C>G (p.Thr9Arg) in COL2A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr9Arg variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. The amino acid change p.Thr9Arg in COL2A1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Thr at position 9 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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