ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) (rs200737038)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206556 SCV000260062 pathogenic Spastic paraplegia 2020-04-15 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. This variant is present in population databases (rs200737038, ExAC 0.2%). This variant has been observed to be homozygous or in combination with another CYP7B1 variant in individuals affected with hereditary spastic paraplegia and has been observed to segregate with disease in families (PMID: 24641183, 19439420, 24117163, 29980238). ClinVar contains an entry for this variant (Variation ID: 219912). Loss-of-function variants in CYP7B1 are known to be pathogenic (PMID: 19439420, 19363635). 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
OMIM RCV001312060 SCV001502492 pathogenic Bile acid synthesis defect, congenital, 3 2021-03-09 no assertion criteria provided literature only

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