ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)

dbSNP: rs144701596
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727184 SCV000617409 uncertain significance not provided 2020-01-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22878431, 26153518, 28324197, 28623566)
Eurofins Ntd Llc (ga) RCV000727184 SCV000706462 uncertain significance not provided 2018-03-19 criteria provided, single submitter clinical testing
Counsyl RCV000670762 SCV000795658 uncertain significance Cholestanol storage disease 2017-11-15 criteria provided, single submitter clinical testing
Invitae RCV000670762 SCV003521101 uncertain significance Cholestanol storage disease 2022-03-14 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 513 of the CYP27A1 protein (p.Arg513His). This variant is present in population databases (rs144701596, gnomAD 0.03%). This missense change has been observed in individual(s) with cerebrotendinous xanthomatosis (PMID: 22878431). ClinVar contains an entry for this variant (Variation ID: 449362). 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.Arg513 amino acid residue in CYP27A1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28623566, 31743419, 32714376). 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 RCV000670762 SCV004190810 likely pathogenic Cholestanol storage disease 2023-07-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000670762 SCV001459904 uncertain significance Cholestanol storage disease 2020-09-16 no assertion criteria provided clinical testing

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