ClinVar Miner

Submissions for variant NM_000785.4(CYP27B1):c.769dup (p.Trp257fs)

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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 RCV003723846 SCV004504180 pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp257Leufs*76) in the CYP27B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP27B1 are known to be pathogenic (PMID: 9837822, 17488797). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CYP27B1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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