ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys) (rs1559102901)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781316 SCV000919247 uncertain significance not specified 2018-08-23 criteria provided, single submitter clinical testing Variant summary: CPS1 c.2153G>A (p.Arg718Lys) results in a conservative amino acid change located in the Carbamoyl-phosphate synthase large subunit, CPSase domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 30888 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.2153G>A, has been reported in the literature in an individual affected with Carbamoylphosphate Synthetase I Deficiency (Haberle_2011). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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