ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2946G>A (p.Val982=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV002573584 SCV004190244 likely benign Glanzmann thrombasthenia 2023-12-19 reviewed by expert panel curation The c.2946G>A (p.Val982=) variant is a synonymous variant that is not predicted by SpliceAI to impact splicing and the nucleotide is only moderately conserved, as shown by phyloP score of 0.703 (BP4, BP7). The highest population minor allele frequency in gnomAD v3.1.2 is 0.0001448 (6/41436 alleles) in the African/African American population. This intermediate allele frequency is lower than the ClinGen PD VCEP threshold (>0.00158) for BS1 but higher than the threshold (<0.0001) for PM2_Supporting, so no allele frequency criteria were met. In addition, no cases of the variant segregating with Glanzmann thrombasthenia were found in the literature. In summary, this variant meets the criteria to be classified as Likely Benign for autosomal recessive Glanzmann Thrombasthenia with the following ACMG/AMP applied, as specified by the ClinGen PD VCEP: BP4, BP7 (VCEP specifications version 2.1)
Genetics and Molecular Pathology, SA Pathology RCV002466879 SCV002761734 uncertain significance Glanzmann thrombasthenia 1 2020-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002573584 SCV003486111 likely benign Glanzmann thrombasthenia 2022-06-20 criteria provided, single submitter clinical testing

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