ClinVar Miner

Submissions for variant NM_000785.4(CYP27B1):c.96dup (p.Ala33fs)

dbSNP: rs1955367536
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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 RCV001234462 SCV001407111 pathogenic not provided 2020-03-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CYP27B1-related conditions. This sequence change creates a premature translational stop signal (p.Ala33Serfs*300) in the CYP27B1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in CYP27B1 are known to be pathogenic (PMID: 9837822, 17488797). For these reasons, this variant has been classified as Pathogenic.

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