ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.1949T>C (p.Met650Thr)

dbSNP: rs1698865403
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226816 SCV001399142 uncertain significance Congenital hyperammonemia, type I 2021-04-08 criteria provided, single submitter clinical testing 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. 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 has not been reported in the literature in individuals with CPS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 650 of the CPS1 protein (p.Met650Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine.
Natera, Inc. RCV001226816 SCV002076233 uncertain significance Congenital hyperammonemia, type I 2021-04-05 no assertion criteria provided clinical testing

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