ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3375C>T (p.Gly1125=) (rs543083152)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994905 SCV001148716 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000994905 SCV001569195 uncertain significance not provided 2020-03-27 criteria provided, single submitter clinical testing This sequence change affects codon 1125 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 present in population databases (rs543083152, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 806873). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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