ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1210+8A>G

gnomAD frequency: 0.00005  dbSNP: rs771317292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV002542537 SCV005061671 likely benign Glanzmann thrombasthenia 2024-04-16 reviewed by expert panel curation The c.1210+8A>G variant is an intronic 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 -0.54 (BP4 and BP7). This variant was submitted to ClinVar in one patient with Glanzmann Thrombasthenia. After a thorough literature search, this variant was not found to be reported in any patients with Glanzmann Thrombasthenia. The highest population minor allele frequency in gnomAD v4.0.0 is 0.0006283 (47/74808 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. 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. (VCEP specifications version 2; date of approval xx/xx/xxxx)
Genetic Services Laboratory, University of Chicago RCV001817485 SCV002068372 uncertain significance not specified 2019-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542537 SCV003251447 likely benign Glanzmann thrombasthenia 2023-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552040 SCV004779440 likely benign ITGA2B-related disorder 2021-02-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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