ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.1593del (p.Pro534fs)

dbSNP: rs778909108
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516585 SCV000612866 likely pathogenic not provided 2016-06-22 criteria provided, single submitter clinical testing
Invitae RCV000516585 SCV002227966 pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 447114). 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.Pro534Leufs*190) 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).

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