ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.1864G>A (p.Val622Met)

dbSNP: rs1553512962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672370 SCV000797468 uncertain significance Congenital hyperammonemia, type I 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV000672370 SCV003524971 uncertain significance Congenital hyperammonemia, type I 2022-05-20 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. This missense change has been observed in individual(s) with clinical features of carbamoyl phosphate synthetase I deficiency (PMID: 21120950). 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"). ClinVar contains an entry for this variant (Variation ID: 556372). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 622 of the CPS1 protein (p.Val622Met).

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