ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241984 SCV001415042 pathogenic Congenital hyperammonemia, type I 2019-11-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1453 of the CPS1 protein (p.Arg1453Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with carbamoyl phosphate synthetase I deficiency (PMID: 21120950, 20578160, 21120950, 22173106). This variant has been reported to affect CPS1 protein function (PMID: 20578160). For these reasons, this variant has been classified as Pathogenic.

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