ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.188+7C>T

gnomAD frequency: 0.00001  dbSNP: rs774338537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000271991 SCV004190233 uncertain significance Glanzmann thrombasthenia 2023-10-17 reviewed by expert panel curation The c.188+7C>T (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 0.00003268 (1/30600 alleles) in the South Asian population, which is lower than the ClinGen PD VCEP threshold (<0.0001; PM2_Supporting). The c.188+7C>T 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 -0.008496 (BP7). In summary, this variant meets the criteria to be classified as variant of uncertain significance for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2, BP7.
Illumina Laboratory Services, Illumina RCV000271991 SCV000403395 uncertain significance Glanzmann thrombasthenia 2018-01-12 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.

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