Submissions for variant NM_000784.4(CYP27A1):c.315C>T (p.His105=)

gnomAD frequency: 0.00002  dbSNP: rs753981913

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000595224	SCV000706510	uncertain significance	not provided	2017-02-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087651	SCV001129011	benign	Cholestanol storage disease	2024-12-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003160040	SCV003856331	likely benign	Cardiovascular phenotype	2022-11-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Natera, Inc.	RCV001087651	SCV002078762	likely benign	Cholestanol storage disease	2021-07-30	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004748840	SCV005363499	likely benign	CYP27A1-related disorder	2024-03-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).