ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.*67G>A

dbSNP: rs11544393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001123788 SCV001282655 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV001123788 SCV005326340 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency criteria provided, single submitter clinical testing The c.*67G>A variant alters a moderately conserved nucleotide the 3 prime untranslated region (3' UTR) of the G6PC3 gene. Variants in the 3' UTR have potential to disrupt binding sites for RNA binding proteins and microRNAs, which may result in changes to gene expression (PMID: 35850704, PMID: 29582564). This variant has been observed in large population databases in the heterozygous state (224 of 275,116 alleles, gnomAD v2.1.1). To our knowledge, it has not been published in the literature or clinical databases in an individual with G6PC3 deficiency.

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