ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.611T>G (p.Leu204Ter)

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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 RCV002626082 SCV002960194 pathogenic not provided 2022-07-13 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 sequence change creates a premature translational stop signal (p.Leu204*) 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 present in population databases (rs749755436, gnomAD 0.002%).

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