Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001372546 | SCV001569219 | uncertain significance | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 2021-08-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004980406 | SCV005596699 | uncertain significance | Inborn genetic diseases | 2024-12-02 | criteria provided, single submitter | clinical testing | The p.G209D variant (also known as c.626G>A), located in coding exon 5 of the G6PC3 gene, results from a G to A substitution at nucleotide position 626. The glycine at codon 209 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |