Submissions for variant NM_001395413.1(POR):c.508-4G>A

gnomAD frequency: 0.00462  dbSNP: rs41299496

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000878617	SCV000470012	uncertain significance	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	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.
GeneDx	RCV001718781	SCV000520373	benign	not provided	2019-05-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25712184)
Invitae	RCV000878617	SCV001021548	benign	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001718781	SCV001471481	benign	not provided	2022-09-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001718781	SCV004185451	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	POR: BP4, BS1
PreventionGenetics, part of Exact Sciences	RCV004544699	SCV004772341	benign	POR-related disorder	2019-10-09	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).