ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu)

dbSNP: rs149518280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246067 SCV001419400 uncertain significance Congenital hyperammonemia, type I 2021-07-14 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1203 of the CPS1 protein (p.Ser1203Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs149518280, ExAC 0.001%). This missense change has been observed in individual(s) with CPS1 deficiency (PMID: 21120950; Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Ser1203 amino acid residue in CPS1. Other variant(s) that disrupt this residue have been observed in individuals with CPS1-related conditions (PMID: 9686343, 16737834), which suggests that this may be a clinically significant amino acid residue. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508796 SCV002818142 likely pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing

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