ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1852C>T (p.Arg618Ter)

gnomAD frequency: 0.00002  dbSNP: rs764469753
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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 RCV001891878 SCV002145033 pathogenic not provided 2021-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL9A1-related conditions. This variant is present in population databases (rs764469753, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Arg618*) in the COL9A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL9A1 are known to be pathogenic (PMID: 16909383, 21421862).

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