Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Victorian Clinical Genetics Services, |
RCV004789704 | SCV005399827 | likely pathogenic | GNE myopathy | 2024-10-09 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Likely pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Nonaka myopathy (MIM#605820), sialuria (MIM#269921) and thrombocytopenia 12 with or without myopathy (MIM#620757). (I) 0108 - This gene is associated with both recessive and dominant disease. Variants associated with sialuria (MIM#2699210) are located at codons Arg263 and Arg266 (PMID: 23842869). (I) 0211 - Canonical splice site variant without proven consequence on splicing (no functional evidence available). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0505 - Abnormal splicing is predicted by in silico tools and affected nucleotide is highly conserved. (SP) 0704 - Another splice site variant comparable to the one identified in this case has limited previous evidence for pathogenicity. c.1634-1G>C has been identified in a compound heterozygous patient with GNE-myopathy (PMID: 32400752). (SP) 0807 - This variant has no previous evidence of pathogenicity. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |