Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
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, |
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, |
RCV000851210 | SCV000993461 | likely pathogenic | Congenital disorder of glycosylation | 2016-07-08 | no assertion criteria provided | research |