ClinVar Miner

Submissions for variant NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter)

gnomAD frequency: 0.00001  dbSNP: rs765191836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178363 SCV000230429 pathogenic not provided 2014-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000623571 SCV000742628 pathogenic Inborn genetic diseases 2017-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000178363 SCV005902935 pathogenic not provided 2024-09-26 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28253385, 24433453, 31638560, 20700148, 20852264, 20637498, 26219881, 27480077)
University of Washington Center for Mendelian Genomics, University of Washington RCV000851210 SCV000993461 likely pathogenic Congenital disorder of glycosylation 2016-07-08 no assertion criteria provided research

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