ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.59G>A (p.Trp20Ter)

dbSNP: rs2127609482
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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 RCV001389050 SCV001590255 pathogenic not provided 2020-03-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp20*) in the COL9A1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL9A1 are known to be pathogenic (PMID: 16909383, 21421862). 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. This variant has not been reported in the literature in individuals with COL9A1-related conditions. This variant is not present in population databases (ExAC no frequency).

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