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
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
Invitae RCV000546486 SCV000631436 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2016-09-02 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.

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