ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.125del (p.Lys42fs)

dbSNP: rs2469040241
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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 RCV002651590 SCV003524893 pathogenic Congenital hyperammonemia, type I 2022-05-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of carbamoyl phosphate synthetase I deficiency (PMID: 21120950). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys42Argfs*15) 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).

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