Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clin |
RCV000369299 | SCV003916012 | likely benign | Glanzmann thrombasthenia | 2023-01-17 | reviewed by expert panel | curation | After a comprehensive literature search of the synonymous variant NM_000419.5(ITGA2B):c.487T>C (p.Leu163=), no individuals with Glanzmann thrombasthenia were reported with the variant. The variant has a minor allele frequency of 0.00068 (24/35340) in the Latino population in gnomAD, which does not meet our threshold criteria for PM2_supporting or BS1. In silico predictor spliceAI revealed that the synonymous mutation is not expected to impact splicing and a PhyloP score of -1.245 shows that the nucleotide position is not highly conserved (BP4, BP7). In summary, this variant meets the criteria to be classified as Likely Benign for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: BP4, BP7 (PD VCEP specifications version 2.1). |
| Illumina Laboratory Services, |
RCV000369299 | SCV000403391 | uncertain significance | Glanzmann thrombasthenia | 2018-01-12 | 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 |
RCV000369299 | SCV002945406 | likely benign | Glanzmann thrombasthenia | 2024-01-06 | criteria provided, single submitter | clinical testing |