ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) (rs144701596)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727184 SCV000617409 uncertain significance not provided 2018-02-05 criteria provided, single submitter clinical testing The R513H variant in the CYP27A1 gene has been reported previously in an adult female with CTX who harbored a second CYP27A1 variant (Ginanneschi et al., 2013). The R513H variant is observed in 5/16512 (0.03%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The R513H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R513H as a variant of uncertain significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
Natera, Inc. RCV000670762 SCV001459904 uncertain significance Cholestanol storage disease 2020-09-16 no assertion criteria provided clinical testing

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