ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg)

gnomAD frequency: 0.00334  dbSNP: rs34491309
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000645980 SCV000403133 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000645980 SCV000767735 benign Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000645980 SCV002799182 likely benign Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2021-10-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709653 SCV005253335 benign not provided criteria provided, single submitter not provided

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