ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3935dup (p.Met1312fs)

dbSNP: rs2105926082
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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 RCV001941686 SCV002235944 pathogenic Congenital hyperammonemia, type I 2021-05-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with CPS1-related conditions (PMID: 32154057). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met1312Ilefs*11) 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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