Submissions for variant NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu)

dbSNP: rs886043512

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000365107	SCV000340478	uncertain significance	not provided	2018-08-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000365107	SCV001819287	uncertain significance	not provided	2024-09-12	criteria provided, single submitter	clinical testing	In silico analysis indicates that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV003372678	SCV004096010	likely benign	Cardiovascular phenotype	2023-07-31	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.
PreventionGenetics, part of Exact Sciences	RCV003897623	SCV004714597	likely benign	CYP27A1-related disorder	2024-09-06	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).