ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2051C>G (p.Ser684Ter)

dbSNP: rs1698929326
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380479 SCV001578561 pathogenic Congenital hyperammonemia, type I 2022-08-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CPS1-related conditions. This sequence change creates a premature translational stop signal (p.Ser684*) 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). ClinVar contains an entry for this variant (Variation ID: 1068809). For these reasons, this variant has been classified as Pathogenic.

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