ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His)

gnomAD frequency: 0.00014  dbSNP: rs755729966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235957 SCV001408666 uncertain significance Spastic paraplegia 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 486 of the CYP7B1 protein (p.Arg486His). This variant is present in population databases (rs755729966, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CYP7B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 962151). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Arg486 amino acid residue in CYP7B1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19439420, 21623769, 23812641, 24117163). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Baylor Genetics RCV001332519 SCV001524868 uncertain significance Congenital bile acid synthesis defect 3 2019-07-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002484291 SCV002786703 uncertain significance Hereditary spastic paraplegia 5A; Congenital bile acid synthesis defect 3 2022-03-09 criteria provided, single submitter clinical testing

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