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
Illumina Laboratory Services, Illumina RCV000779444 SCV000916064 uncertain significance SRD5A3-congenital disorder of glycosylation 2017-08-25 criteria provided, single submitter clinical testing The SRD5A3 c.603G>A (p.Trp201Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The p.Trp201Ter variant has been reported in one study in which it was identified in a homozygous state in two siblings with congenital disorders of glycosylation (Wheeler et al. 2016). Both siblings have a severe phenotype with some features in common, including skin abnormalities, unusual sacral lesions, impaired psychomotor development, mild hypotonia and ataxia, febrile seizures, and differing dysmorphic features. Control data are unavailable for this variant, which is not found in the 1000 Genomes Project, the Exome Sequencing Project, the Exome Aggregation Consortium, or the Genome Aggregation Database despite being located in areas of good sequence coverage, so the variant is presumed rare. Based on the limited evidence and the potential impact of stop-gained variants, the p.Trp201Ter variant is classified as a variant of uncertain significance but suspicious for congenital disorders of glycosylation. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
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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