ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) (rs9332967)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546486 SCV000631436 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2019-04-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 246 of the SRD5A2 protein (p.Arg246Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs9332967, ExAC 0.2%). This variant has been reported as homozygous or compound heterozygous in many individuals affected with 5-alpha reductase type 2 deficiency (PMID: 1522235, 20493473, 26446026, 10718838, 20190539, 26980298, 18097518, 2665940, 20583543, 18717241, 19492581, 14594182, 23329752, 25899528). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change that has been reported to contribute to disease in many affected individuals. For this reason, it has been classificed as Pathogenic.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000546486 SCV000692401 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2009-07-21 no assertion criteria provided clinical testing

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