ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs)

dbSNP: rs749009747
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000476263 SCV000537306 pathogenic Knobloch syndrome 2017-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001729598 SCV002119994 pathogenic not provided 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly892Argfs*9) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individuals with Knobloch syndrome (PMID: 23667181, 27259167, 28144890). This variant is also known as c.3213dupC (p.Gly1072Argfs*9). ClinVar contains an entry for this variant (Variation ID: 403722). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001729598 SCV002504637 pathogenic not provided 2023-10-24 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28924418, 34680907, 31415705, 19390655, 28144890)
MGZ Medical Genetics Center RCV002289584 SCV002578987 pathogenic Knobloch syndrome 1 2022-07-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001729598 SCV001978625 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729598 SCV001980452 pathogenic not provided no assertion criteria provided clinical testing

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