ClinVar Miner

Submissions for variant NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)

gnomAD frequency: 0.00001  dbSNP: rs753829097
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666611 SCV000790930 uncertain significance Arginase deficiency 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000666611 SCV001576117 pathogenic Arginase deficiency 2023-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ARG1 protein function. ClinVar contains an entry for this variant (Variation ID: 551529). This missense change has been observed in individual(s) with arginase deficiency (PMID: 27038030, 30285816; Invitae). This variant is present in population databases (rs753829097, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 99 of the ARG1 protein (p.Gly99Arg).
GeneDx RCV003228976 SCV003925966 likely pathogenic not provided 2023-05-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27038030, 29726057, 35499206, 30285816)
Baylor Genetics RCV000666611 SCV004206107 pathogenic Arginase deficiency 2023-09-29 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000666611 SCV004227895 likely pathogenic Arginase deficiency criteria provided, single submitter clinical testing

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