ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.802A>T (p.Arg268Ter)

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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 RCV003678197 SCV004425527 pathogenic not provided 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg268*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL9A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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