Submissions for variant NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)

gnomAD frequency: 0.00225  dbSNP: rs75897848

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173169	SCV000224262	benign	not specified	2015-01-05	criteria provided, single submitter	clinical testing
Invitae	RCV000055827	SCV001032470	benign	Cholestanol storage disease	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000055827	SCV001298087	likely benign	Cholestanol storage disease	2017-04-28	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001705709	SCV001823348	likely benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453369	SCV002737250	likely benign	Cardiovascular phenotype	2022-02-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc.	RCV000055827	SCV002076365	likely benign	Cholestanol storage disease	2019-12-16	no assertion criteria provided	clinical testing