Submissions for variant NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)

gnomAD frequency: 0.01643  dbSNP: rs61733619

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000055829	SCV000630394	benign	Cholestanol storage disease	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000838645	SCV000980521	benign	not provided	2018-05-25	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.
Illumina Laboratory Services, Illumina	RCV000055829	SCV001298199	benign	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Ambry Genetics	RCV002371898	SCV002685331	benign	Cardiovascular phenotype	2018-12-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV000055829	SCV002807501	likely benign	Cholestanol storage disease	2021-09-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000055829	SCV001455785	benign	Cholestanol storage disease	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001795045	SCV002034399	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000838645	SCV002035666	likely benign	not provided		no assertion criteria provided	clinical testing