ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) (rs150966847)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177871 SCV000229821 uncertain significance not provided 2015-05-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764360 SCV000895383 uncertain significance Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330453 SCV000426848 uncertain significance Congenital hyperammonemia, type I 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000330453 SCV000823966 uncertain significance Congenital hyperammonemia, type I 2018-12-17 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1418 of the CPS1 protein (p.Pro1418Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs150966847, ExAC 0.1%). This variant has not been reported in the literature in individuals with CPS1-related disease. ClinVar contains an entry for this variant (Variation ID: 196974). 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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