ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.1718_1719dup (p.Gly574fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003551355 SCV004273693 pathogenic not provided 2023-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly574Profs*151) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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