ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) (rs202107577)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669578 SCV000794345 likely pathogenic Congenital hyperammonemia, type I 2017-09-24 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000669578 SCV000930270 pathogenic Congenital hyperammonemia, type I 2019-04-27 criteria provided, single submitter clinical testing
Invitae RCV000669578 SCV000950023 pathogenic Congenital hyperammonemia, type I 2018-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg721*) in the CPS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs202107577, ExAC 0.006%). This variant has been observed in an individual with carbamylphosphate synthetase 1 deficiency (PMID: 12655559). ClinVar contains an entry for this variant (Variation ID: 554027). Loss-of-function variants in CPS1 are known to be pathogenic (PMID: 21120950). For these reasons, this variant has been classified as Pathogenic.

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