ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2978_2987del (p.Pro993fs)

dbSNP: rs756797124
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761494 SCV000891613 pathogenic Knobloch syndrome 2017-12-30 criteria provided, single submitter curation
Centogene AG - the Rare Disease Company RCV000761494 SCV001426509 pathogenic Knobloch syndrome criteria provided, single submitter clinical testing
DASA RCV000761494 SCV002061249 pathogenic Knobloch syndrome 2022-01-05 criteria provided, single submitter clinical testing The c.3509_3518del;p.(Pro1170Leufs*35) is a null frameshift variant (NMD) in the COL18A1 gene and predicts alteration of the nonsense-mediate decay - NMD is present in a relevantexon to the transcript -PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (PMID: 32860008) - PS4. This variant is not present in population databases (rs756797124, gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. The p.(Pro1170Leufs*35) was detected in trans with a pathogenic variant (PMID: 32860008) -PM3. In summary, the currently available evidence indicates that the variant is pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855942 SCV002184569 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro990Leufs*35) 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 variant is present in population databases (rs756797124, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with clinical features of Knobloch syndrome (PMID: 12415512, 32860008). ClinVar contains an entry for this variant (Variation ID: 623349). For these reasons, this variant has been classified as Pathogenic.

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