ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3132C>G (p.Tyr1044Ter)

dbSNP: rs1700264768
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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 RCV003036627 SCV003351711 pathogenic Congenital hyperammonemia, type I 2024-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1044*) 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). This variant has not been reported in the literature in individuals affected with CPS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2132205). For these reasons, this variant has been classified as Pathogenic.

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