Submissions for variant NM_001360.3(DHCR7):c.1272C>T (p.Gly424=)

gnomAD frequency: 0.56172  dbSNP: rs909217

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079641	SCV000111524	benign	not specified	2018-06-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891550	SCV000307639	benign	DHCR7-related disorder	2021-04-07	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina	RCV000352975	SCV000373907	benign	Smith-Lemli-Opitz syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000352975	SCV000603310	benign	Smith-Lemli-Opitz syndrome	2021-10-05	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000352975	SCV000677268	benign	Smith-Lemli-Opitz syndrome	2017-04-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311592	SCV000846157	benign	Inborn genetic diseases	2016-03-11	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000079641	SCV001652984	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Gly424Gly in exon 9 of DHCR7: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 69.38% (44295/63848) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs909217).
Invitae	RCV000352975	SCV001722246	benign	Smith-Lemli-Opitz syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000352975	SCV001749225	benign	Smith-Lemli-Opitz syndrome	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001711230	SCV001942764	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079641	SCV001741604	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079641	SCV001953509	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000352975	SCV002092997	benign	Smith-Lemli-Opitz syndrome	2017-05-05	no assertion criteria provided	clinical testing