ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.-2-209C>A

gnomAD frequency: 0.00001  dbSNP: rs1438440008
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Total submissions: 1
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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 RCV000768038 SCV000898873 uncertain significance Immunodeficiency 23 2021-03-30 criteria provided, single submitter clinical testing PGM3 NM_001199917.1 exon 2 p.Gln16Lys (c.46C>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation for this variant is limited or unavailable; computational predictive tools for this variant 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.

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