Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clin |
RCV001122504 | SCV004190238 | likely benign | Glanzmann thrombasthenia | 2023-11-02 | reviewed by expert panel | curation | The c.1383C>T (p.Asn461=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by phyloP score of -0.913 (BP7 and BP4). The highest population minor allele frequency in gnomAD v2.1.1 is 0.00004396 (5/113734 alleles) in the European (non-Finnish) population, which is lower than the ClinGen PD VCEP threshold (<0.0001; PM2_Supporting). This variant was observed by Illumina as part of a predisposition screen in an ostensibly healthy population, however, no cases of the variant segregating with GT were found in the literature. 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 and PM2_Supporting (VCEP specifications version 2.1). |
| Illumina Laboratory Services, |
RCV001122504 | SCV001281223 | uncertain significance | Glanzmann thrombasthenia | 2018-03-30 | 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 |
RCV001122504 | SCV003488832 | likely benign | Glanzmann thrombasthenia | 2023-12-21 | criteria provided, single submitter | clinical testing | |
| Breakthrough Genomics, |
RCV004694757 | SCV005192908 | uncertain significance | not provided | criteria provided, single submitter | not provided |