ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) (rs371449777)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591741 SCV000706932 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing
Invitae RCV001054067 SCV001218360 uncertain significance Cholestanol storage disease 2019-10-03 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 28 of the CYP27A1 protein (p.Lys28Thr). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and threonine. This variant is present in population databases (rs371449777, ExAC 0.07%). This variant has not been reported in the literature in individuals with CYP27A1-related disease. ClinVar contains an entry for this variant (Variation ID: 500828). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252221 SCV001427972 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
GeneDx RCV000591741 SCV001790461 uncertain significance not provided 2019-06-26 no assertion criteria provided clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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