ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu)

gnomAD frequency: 0.00001  dbSNP: rs770471782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674361 SCV000799685 uncertain significance Congenital hyperammonemia, type I 2018-05-03 criteria provided, single submitter clinical testing
Invitae RCV000674361 SCV003524895 uncertain significance Congenital hyperammonemia, type I 2022-01-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1065 of the CPS1 protein (p.Ala1065Glu). This variant is present in population databases (rs770471782, gnomAD 0.002%). This missense change has been observed in individual(s) with carbamoyl phosphate synthetase I deficiency (PMID: 21120950). ClinVar contains an entry for this variant (Variation ID: 558135). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
CeGaT Center for Human Genetics Tuebingen RCV003222095 SCV003916232 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing CPS1: PM2, PP3, PP4

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