ClinVar Miner

Submissions for variant NM_015599.3(PGM3):c.219A>G (p.Val73=) (rs752657453)

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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 RCV000768281 SCV000898872 uncertain significance Immunodeficiency 23 2018-10-24 criteria provided, single submitter clinical testing PGM3 NM_001199917.1 exon 4 p.Val101= (c.303A>G): This variant has not been reported in the literature and is present in 0.03% (13/33576) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/6-83898503-T-C). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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