ClinVar Miner

Submissions for variant NM_000494.4(COL17A1):c.3456del (p.Pro1154fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003661041 SCV004380219 pathogenic not provided 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1154Leufs*97) in the COL17A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL17A1 are known to be pathogenic (PMID: 16473856, 17344927, 20301304, 21357940, 24319098). This variant is present in population databases (rs771188543, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with COL17A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2572031). For these reasons, this variant has been classified as Pathogenic.
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV003314766 SCV004012857 pathogenic Amelogenesis imperfecta type 1A 2023-07-12 no assertion criteria provided research

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