ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001269946 SCV001450321 pathogenic not provided 2017-10-17 criteria provided, single submitter clinical testing
Invitae RCV001269946 SCV001574302 likely pathogenic not provided 2020-09-11 criteria provided, single submitter clinical testing This sequence change affects codon 954 of the COL2A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL2A1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Stickler syndrome (PMID: 20513134, 20179744). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: PMID: 20513134, 20179744). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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