ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.199_218+1del

dbSNP: rs1597905369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001815446 SCV000996064 pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2017-07-19 criteria provided, single submitter clinical testing This in-frame deletion is predicted to impact the canonical splice site region between exon and intron 1 and result in aberrant splicing. This variant has not been previously reported or functionally characterized in the literature to our knowledge. Loss of function variants downstream of this variant have been reported in patients with Dursun syndrome. Based on the predicted functional impact of this variant and supporting evidence, this variant is classified as pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV003480880 SCV004226908 pathogenic not provided 2022-06-01 criteria provided, single submitter clinical testing PM2, PM3_strong, PVS1_strong

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