Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000357831 | SCV000367678 | uncertain significance | Glycogen storage disease, type I | 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. |
| Labcorp Genetics |
RCV000675174 | SCV001218414 | pathogenic | Glucose-6-phosphate transport defect | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 27 of the SLC37A4 protein (p.Asn27Lys). This variant is present in population databases (rs193302889, gnomAD 0.002%). This missense change has been observed in individuals with glycogen storage disease type 1b (PMID: 10923042, 28685844). It has also been observed to segregate with disease in related individuals. This variant is also known as c.250T>A. ClinVar contains an entry for this variant (Variation ID: 68290). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC37A4 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects SLC37A4 function (PMID: 12444104). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV000675174 | SCV005056861 | pathogenic | Glucose-6-phosphate transport defect | 2023-12-17 | criteria provided, single submitter | clinical testing | |
| Uni |
RCV000059141 | SCV000090670 | not provided | not provided | no assertion provided | not provided | ||
| Centre for Mendelian Genomics, |
RCV000414827 | SCV000492606 | likely pathogenic | Hepatomegaly; Immunodeficiency; Recurrent respiratory infections; Splenomegaly; Neutropenia; Leukopenia | 2016-05-30 | no assertion criteria provided | clinical testing | |
| Counsyl | RCV000675174 | SCV000800798 | likely pathogenic | Glucose-6-phosphate transport defect | 2017-12-06 | no assertion criteria provided | clinical testing |