Submissions for variant NM_000348.4(SRD5A2):c.282-2A>G

dbSNP: rs1340425455

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV001821708	SCV002069313	pathogenic	not provided	2018-12-19	criteria provided, single submitter	clinical testing	DNA sequence analysis of the SRD5A2 gene demonstrated a sequence change in the canonical splice acceptor site of intron 1, c.282-2A>G, in the apparent homozygous state. This is a novel sequence change that has not previously been seen in large population databases (ExAC, gnomAD). This sequence change is predicted to affect normal splicing of the SRD5A2 gene and result in a truncated protein. This particular sequence change has been previously described in several patients with SRD5A2-related disorders (PMIDs: 12008688, 22001134, 20511729).
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	RCV000583485	SCV000692383	pathogenic	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	2017-07-27	no assertion criteria provided	clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV000583485	SCV003927879	uncertain significance	3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	2023-04-01	no assertion criteria provided	clinical testing