ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter)

gnomAD frequency: 0.00001  dbSNP: rs189754995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382407 SCV001581160 pathogenic not provided 2024-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg507*) 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 premature translational stop signal has been observed in individual(s) with Stickler syndrome (PMID: 21421862). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 161449). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277296 SCV002566387 pathogenic Connective tissue disorder 2020-10-30 criteria provided, single submitter clinical testing
OMIM RCV000148951 SCV000195871 pathogenic Stickler syndrome, type 4 2011-07-01 no assertion criteria provided literature only

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