ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) (rs138424013)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731747 SCV000859596 uncertain significance not provided 2018-02-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309973 SCV000426822 uncertain significance Congenital hyperammonemia, type I 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000309973 SCV000935999 uncertain significance Congenital hyperammonemia, type I 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 341 of the CPS1 protein (p.Leu341Val). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs138424013, ExAC 0.06%). This variant has not been reported in the literature in individuals with CPS1-related disease. ClinVar contains an entry for this variant (Variation ID: 334019). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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