ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.992dup (p.Arg332fs)

dbSNP: rs2035718735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198460 SCV001369394 likely pathogenic Glaucoma, primary closed-angle 2020-01-14 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
Invitae RCV002559265 SCV002991279 pathogenic not provided 2021-12-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 931662). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg332Profs*81) in the COL18A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL18A1 are known to be pathogenic (PMID: 12415512, 25456301). For these reasons, this variant has been classified as Pathogenic.

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