ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1330C>T (p.Gln444Ter)

gnomAD frequency: 0.00001  dbSNP: rs1772042015
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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 RCV001389020 SCV001590224 pathogenic not provided 2022-11-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL9A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1075420). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln444*) 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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