ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp)

gnomAD frequency: 0.00001  dbSNP: rs754730601
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441505 SCV000521340 likely pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29482223, 24117163)
Eurofins Ntd Llc (ga) RCV000441505 SCV000709596 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000441505 SCV001335169 uncertain significance not provided 2020-03-01 criteria provided, single submitter clinical testing
Paris Brain Institute, Inserm - ICM RCV001391405 SCV001451294 pathogenic Hereditary spastic paraplegia 5A criteria provided, single submitter clinical testing
Invitae RCV001861511 SCV002224704 uncertain significance Spastic paraplegia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 147 of the CYP7B1 protein (p.Gly147Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs754730601, ExAC 0.003%). This missense change has been observed in individual(s) with CYP7B1-related conditions (PMID: 24117163, 29482223). ClinVar contains an entry for this variant (Variation ID: 381743). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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