ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter)

gnomAD frequency: 0.00001  dbSNP: rs72554620
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800899 SCV000940642 pathogenic Spastic paraplegia 2023-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg388*) 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 present in population databases (rs72554620, gnomAD 0.005%). This premature translational stop signal has been observed in individuals with hereditary spastic paraplegia and neonatal liver failure (PMID: 9802883, 18252231, 19812052). ClinVar contains an entry for this variant (Variation ID: 6100). For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000006474 SCV001367373 pathogenic Hereditary spastic paraplegia 5A 2020-02-27 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS4_MOD,PM2.
Paris Brain Institute, Inserm - ICM RCV000006474 SCV001451298 pathogenic Hereditary spastic paraplegia 5A criteria provided, single submitter clinical testing
OMIM RCV000006473 SCV000026656 pathogenic Congenital bile acid synthesis defect 3 2008-02-01 no assertion criteria provided literature only
OMIM RCV000006474 SCV000026657 pathogenic Hereditary spastic paraplegia 5A 2008-02-01 no assertion criteria provided literature only

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