ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.920G>A (p.Ser307Asn)

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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 RCV003224684 SCV003919992 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2022-10-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.02% (4/18394) (https://gnomad.broadinstitute.org/variant/17-42153290-G-A?dataset=gnomad_r2_1). 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.

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