ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.2737C>T (p.Arg913Ter)

gnomAD frequency: 0.00001  dbSNP: rs145221543
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324614 SCV001515574 uncertain significance not provided 2020-07-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the COL9A1 gene (p.Arg913*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acids of the COL9A1 protein. This variant is present in population databases (rs145221543, ExAC 0.01%). This variant has not been reported in the literature in individuals with COL9A1-related conditions. 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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