ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) (rs121434245)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003503 SCV000631419 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2016-05-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with  glutamine at codon 55 of the SRD5A2 protein (p.Leu55Gln). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and glutamine. This variant is not present in population databases (rs121434245, ExAC no frequency). This variant has been reported as homozygous in many individuals affected with SRD5A2-related disease, and was shown to segregate with disease in an affected family (PMID: 20850730, 8768837, 1522235, 12008688) Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change that has been clearly associated with 5-alpha reductase deficiency in affected individuals. Therefore, it has been classified as Pathogenic.
OMIM RCV000003503 SCV000023661 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1996-08-01 no assertion criteria provided literature only

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