Submissions for variant NM_001360.3(DHCR7):c.399C>T (p.Ala133=)

gnomAD frequency: 0.00248  dbSNP: rs147424205

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000243526	SCV000231007	likely benign	not specified	2015-10-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000243526	SCV000307646	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000400238	SCV000373922	uncertain significance	Smith-Lemli-Opitz syndrome	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics	RCV002312727	SCV000846838	likely benign	Inborn genetic diseases	2016-06-09	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.
Invitae	RCV000400238	SCV001020092	benign	Smith-Lemli-Opitz syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000243526	SCV001361498	likely benign	not specified	2019-08-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000400238	SCV001471504	likely benign	Smith-Lemli-Opitz syndrome	2019-07-22	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV000400238	SCV001652832	likely benign	Smith-Lemli-Opitz syndrome	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001706145	SCV001827464	likely benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000243526	SCV002066294	likely benign	not specified	2020-05-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706145	SCV002497153	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	DHCR7: BP4, BP7, BS2
Natera, Inc.	RCV000400238	SCV001459048	likely benign	Smith-Lemli-Opitz syndrome	2019-08-05	no assertion criteria provided	clinical testing