ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) (rs114819130)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514724 SCV000610893 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
GeneDx RCV000479247 SCV000566492 uncertain significance not specified 2017-09-28 criteria provided, single submitter clinical testing The G150E variant has not been published as a pathogenic variant to our knowledge. It has beenreported previously in a report of sequence variants in urea cycle genes found in an unaffectedpopulation from North America (Mitchell et al., 2009). The G150E variant is observed in 595/66728(0.89%) alleles from individuals of European (non-Finnish) background in the ExAC dataset (Lek etal., 2016). The G150E variant is a non-conservative amino acid substitution, which is likely to impactsecondary protein structure as these residues differ in polarity, charge, size and/or other properties.This substitution occurs at a position where amino acids with similar properties to Glycine aretolerated across species. In silico analysis predicts this variant is probably damaging to the proteinstructure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant
Illumina Clinical Services Laboratory,Illumina RCV000338838 SCV000426814 uncertain significance Congenital hyperammonemia, type I 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000338838 SCV000777139 likely benign Congenital hyperammonemia, type I 2017-11-12 criteria provided, single submitter clinical testing

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