ClinVar Miner

Submissions for variant NM_000785.4(CYP27B1):c.1290_1294dup (p.Arg432fs)

dbSNP: rs2140396191
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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 RCV001384645 SCV001584217 pathogenic not provided 2020-01-17 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CYP27B1 gene (p.Arg432Glnfs*44). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 77 amino acids of the CYP27B1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CYP27B1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant disrupts the C-terminus of the CYP27B1 protein. Other variant(s) that disrupt this region (p.Phe443Profs*24) have been determined to be pathogenic (PMID: 25296067, 22443290, 9837822). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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