Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003093704 | SCV003470885 | uncertain significance | Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 2022-07-01 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 156 of the G6PC3 protein (p.Ala156Val). This variant is present in population databases (rs374402992, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with G6PC3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV004978572 | SCV005594949 | uncertain significance | Inborn genetic diseases | 2024-11-23 | criteria provided, single submitter | clinical testing | The p.A156V variant (also known as c.467C>T), located in coding exon 4 of the G6PC3 gene, results from a C to T substitution at nucleotide position 467. The alanine at codon 156 is replaced by valine, 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. |