ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2819G>A (p.Trp940Ter)

dbSNP: rs1446095060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990006 SCV002228595 pathogenic Congenital hyperammonemia, type I 2021-09-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with CPS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp940*) 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).
Fulgent Genetics, Fulgent Genetics RCV005025504 SCV005655782 likely pathogenic Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 2024-03-16 criteria provided, single submitter clinical testing

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