ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs)

dbSNP: rs776075679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592016 SCV000703335 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532413 SCV003524526 likely pathogenic Spastic paraplegia 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu487Phefs*11) in the CYP7B1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acid(s) of the CYP7B1 protein. This variant is present in population databases (rs776075679, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with hereditary spastic paraplegia (PMID: 23812641, 26374131). ClinVar contains an entry for this variant (Variation ID: 498356). This variant disrupts a region of the CYP7B1 protein in which other variant(s) (p.Gly490Cys) have been observed in individuals with CYP7B1-related conditions (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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