ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) (rs41272687)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179342 SCV000231576 benign not specified 2014-12-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000179342 SCV000305516 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000179342 SCV000518722 benign not specified 2016-10-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000179342 SCV000538767 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP(all): 241/13006=1.8%
Athena Diagnostics Inc RCV000179342 SCV000613049 benign not specified 2017-07-03 criteria provided, single submitter clinical testing
Mendelics RCV000056071 SCV001136217 likely benign Cholestanol storage disease 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000056071 SCV001298202 uncertain significance Cholestanol storage disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneReviews RCV000056071 SCV000087134 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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