ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2368C>T (p.Arg790Ter)

dbSNP: rs1555870809
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001805122 SCV002053805 pathogenic Knobloch syndrome criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524405 SCV002961453 pathogenic not provided 2021-12-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg790*) 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). This premature translational stop signal has been observed in individual(s) with inherited retinal disorders (PMID: 32581362). ClinVar contains an entry for this variant (Variation ID: 438061). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504887 SCV000598893 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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