ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe)

dbSNP: rs1404696893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667866 SCV000792378 uncertain significance Congenital hyperammonemia, type I 2017-06-21 criteria provided, single submitter clinical testing
Invitae RCV000667866 SCV000941863 uncertain significance Congenital hyperammonemia, type I 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 998 of the CPS1 protein (p.Ser998Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with CPS1 deficiency (PMID: 16737834, 20800523). 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.
Natera, Inc. RCV000667866 SCV001453727 uncertain significance Congenital hyperammonemia, type I 2020-09-16 no assertion criteria provided clinical testing

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