ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.188+8G>A

dbSNP: rs13306471
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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 RCV000366588 SCV004190236 benign Glanzmann thrombasthenia 2023-10-17 reviewed by expert panel curation The c.188+8G>A (NM_000419.5) variant in ITGA2B is an intronic variant which is in intron 1. The highest population minor allele frequency in gnomAD v2.1.1 is 0.009779 (195/19940 alleles) in East Asian population, which is higher than the ClinGen PD VCEP threshold (>0.0024), and therefore meets this criterion (BA1). The c.188+8G>A 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 -2.9895 (BP7). In summary, this variant meets the criteria to be classified as benign for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: BA1, BP7.
Illumina Laboratory Services, Illumina RCV000366588 SCV000403394 likely benign Glanzmann thrombasthenia 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000366588 SCV004398235 benign Glanzmann thrombasthenia 2023-11-04 criteria provided, single submitter clinical testing

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