Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000288776 | SCV001478547 | benign | Glanzmann thrombasthenia | 2020-11-10 | reviewed by expert panel | curation | The ITGA2B c.2621T>G (p.Ile874Ser) missense variant has been reported many times in the literature as an alloantigenic site. This variant has been observed in cis with several other Glanzmann thrombasthenia variants, including the pathogenic Tyr471Ter and c.1440-13_1440-1del ITGA2B variants and the Pro189Ser ITGB3 variant (PMID: 25728920). It is present in gnomAD at an overall allele frequency of 0.39177 (and 0.43954 in the non-Finnish European population). Computational evidence suggest no impact on the gene/gene product, with a REVEL score of 0.055. In summary, this variant meets criteria to be classified as benign for GT. GT-specific criteria applied: BA1, BP2, BP4. |
Prevention |
RCV000246752 | SCV000304086 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000288776 | SCV000403361 | benign | Glanzmann thrombasthenia | 2018-03-06 | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Gene |
RCV000246752 | SCV000515962 | benign | not specified | 2015-09-08 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000288776 | SCV001717671 | benign | Glanzmann thrombasthenia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001730470 | SCV001980744 | benign | Glanzmann thrombasthenia 1 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003025 | SCV000023183 | association | BAK PLATELET-SPECIFIC ANTIGEN | 2021-04-13 | no assertion criteria provided | literature only |