ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.650dup (p.Leu217fs)

dbSNP: rs1298132281
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053764 SCV001218041 pathogenic Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu217Phefs*4) 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 (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 23812641). This variant is also known as p.L217Ffs*3. ClinVar contains an entry for this variant (Variation ID: 849738). For these reasons, this variant has been classified as Pathogenic.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847139 SCV002104559 likely pathogenic Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
GeneDx RCV002464362 SCV002759043 pathogenic not provided 2022-06-03 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 23812641)
Athena Diagnostics RCV002464362 SCV002770805 pathogenic not provided 2021-08-30 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene.
Genomics England Pilot Project, Genomics England RCV001542583 SCV001760221 likely pathogenic Hereditary spastic paraplegia 5A no assertion criteria provided clinical testing

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