ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)

gnomAD frequency: 0.00007  dbSNP: rs200737038
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206556 SCV000260062 pathogenic Spastic paraplegia 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg112*) 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 (rs200737038, gnomAD 0.2%). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 19439420, 24117163, 24641183, 29980238). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 219912). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000210595 SCV000262949 pathogenic Inborn genetic diseases 2012-12-04 criteria provided, single submitter clinical testing Please see table 3 in supplementary results of the main report. This variant has not been detected in conjunction with a pathogenic mutation to date. This amino acid position is highly conserved in available vertebrate species.
Eurofins Ntd Llc (ga) RCV000729706 SCV000857392 pathogenic not provided 2017-10-09 criteria provided, single submitter clinical testing
Paris Brain Institute, Inserm - ICM RCV000206556 SCV001451311 uncertain significance Spastic paraplegia criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847930 SCV002104555 pathogenic Hereditary spastic paraplegia 2019-09-01 criteria provided, single submitter clinical testing
OMIM RCV001312060 SCV001502492 pathogenic Congenital bile acid synthesis defect 3 2021-03-09 no assertion criteria provided literature only

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