ClinVar Miner

Submissions for variant NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) (rs398124401)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000173528 SCV000807621 pathogenic Congenital disorder of glycosylation type 1Q 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory homozygous in a 5-year-old male with intellectual disability, hypotonia, ataxia, abnormal movements, dysmorphic features, microcephaly, failure to thrive, optic nerve atrophy, and a duplicated left kidney. Heterozygotes are expected to be asymptomatic carriers
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences RCV000173528 SCV000693886 pathogenic Congenital disorder of glycosylation type 1Q 2017-07-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082197 SCV000224649 pathogenic not provided 2016-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000082197 SCV000322373 pathogenic not provided 2017-08-04 criteria provided, single submitter clinical testing The W19X pathogenic variant in the SRD5A3 gene has been reported previously in the homozygous state in three unrelated children and two adult siblings with a congenital glycosylation disorder and primary clinical features including motor delays, cerebellar ataxia, abnormal muscle tone, optic nerve atrophy, and visual impairment (Morava et al., 2010; Grundahl et al., 2012; Kara et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. While not observed in the homozygous state, the W19X variant is observed in 11/9368 (0.1%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). We interpret W19X as a pathogenic variant.
University of Washington Center for Mendelian Genomics,University of Washington RCV000851211 SCV000993462 likely pathogenic Congenital disorder of glycosylation 2016-07-08 no assertion criteria provided research

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