ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.521G>T (p.Arg174Leu) (rs73749732)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000546230 SCV000898871 uncertain significance Immunodeficiency 23 2018-07-03 criteria provided, single submitter clinical testing PGM3 NM_001199917.1 exon 6 p.Arg202Leu (c.605G>T): This variant has not been reported in the literature but is present in 0.9% (220/24038) of African alleles, including 2 homozygotes, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs73749732). This variant is present in ClinVar (Variation ID:475003). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000546230 SCV000655103 benign Immunodeficiency 23 2017-12-27 criteria provided, single submitter clinical testing

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