ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)

dbSNP: rs774193477
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665735 SCV000789902 uncertain significance Cholestanol storage disease 2017-03-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997668 SCV001153310 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
Invitae RCV000665735 SCV002315621 uncertain significance Cholestanol storage disease 2022-10-13 criteria provided, single submitter clinical testing This variant, c.207_209del, results in the deletion of 1 amino acid(s) of the CYP27A1 protein (p.Phe70del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774193477, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CYP27A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 550863). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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