ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.650T>A (p.Leu217Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003750472 SCV004510306 pathogenic Spastic paraplegia 2024-08-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu217*) in the CYP7B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP7B1 are known to be pathogenic (PMID: 9802883, 19363635, 19439420, 21541746, 21567895, 28039895). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 34782662). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005051368 SCV005677275 likely pathogenic Hereditary spastic paraplegia 5A; Congenital bile acid synthesis defect 3 2024-01-30 criteria provided, single submitter clinical testing

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