ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)

gnomAD frequency: 0.00015  dbSNP: rs121434247
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003505 SCV001590810 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 183 of the SRD5A2 protein (p.Gly183Ser). This variant also falls at the last nucleotide of exon 3, which is part of the consensus splice site for this exon. This variant is present in population databases (rs121434247, gnomAD 0.04%). This missense change has been observed in individual(s) with steroid 5-alpha-reductase deficiency (PMID: 1522235, 18314109, 18350250, 28544750). ClinVar contains an entry for this variant (Variation ID: 3341). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this missense change affects SRD5A2 function (PMID: 18350250). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000003505 SCV004190302 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2023-11-20 criteria provided, single submitter clinical testing ACMG:PS5 PM2 PM3 PP4 PP5
OMIM RCV000003505 SCV000023663 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1996-05-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000003505 SCV000692389 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2013-09-23 no assertion criteria provided clinical testing

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