Submissions for variant NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)

gnomAD frequency: 0.00054  dbSNP: rs144562471

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723626	SCV000111527	uncertain significance	not provided	2018-08-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000247087	SCV000307641	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000261724	SCV000373905	uncertain significance	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, 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	RCV002316237	SCV000850122	likely benign	Inborn genetic diseases	2016-07-29	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	RCV000261724	SCV001014748	likely benign	Smith-Lemli-Opitz syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000247087	SCV001572402	likely benign	not specified	2021-04-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000247087	SCV002070707	likely benign	not specified	2019-05-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000723626	SCV004010098	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	DHCR7: BP4, BP7
Natera, Inc.	RCV000261724	SCV001460485	likely benign	Smith-Lemli-Opitz syndrome	2020-09-16	no assertion criteria provided	clinical testing