ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.487G>T (p.Gly163Ter)

dbSNP: rs200214298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000317058 SCV000336032 pathogenic not provided 2015-10-12 criteria provided, single submitter clinical testing
Invitae RCV002519139 SCV003255468 pathogenic Congenital hyperammonemia, type I 2022-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly163*) in the CPS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPS1 are known to be pathogenic (PMID: 21120950). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 283734). This variant has not been reported in the literature in individuals affected with CPS1-related conditions.
Baylor Genetics RCV003469230 SCV004214482 likely pathogenic Pulmonary hypertension, neonatal, susceptibility to 2023-10-23 criteria provided, single submitter clinical testing

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