ClinVar Miner

Submissions for variant NM_000785.4(CYP27B1):c.1321del (p.His441fs)

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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 RCV003814389 SCV004615271 pathogenic not provided 2023-02-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His441Thrfs*33) in the CYP27B1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 68 amino acid(s) of the CYP27B1 protein. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CYP27B1 protein in which other variant(s) (p.Phe443Profs*24) have been determined to be pathogenic (PMID: 9837822, 22443290, 25296067). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with CYP27B1-related conditions.

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