ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.1150del (p.Asp384fs)

dbSNP: rs2129629942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507735 SCV001713466 likely pathogenic not provided 2020-05-01 criteria provided, single submitter clinical testing PVS1_strong, PM2
Invitae RCV003588741 SCV004273056 pathogenic Spastic paraplegia 2023-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1163024). This variant has not been reported in the literature in individuals affected with CYP7B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp384Thrfs*10) 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).

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