ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2489T>G (p.Leu830Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV002511515 SCV002820903 uncertain significance Glanzmann thrombasthenia 2022-10-06 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.2489T>G (p.Leu830Arg) missense variant has been reported in at least one homozygous patient (UPN 9 in PMID: 16879215; PM3_supporting). The highest population minor allele frequency in gnomAD v2.1.1 is 0.00003270 (1/30578 alleles) in the South Asian population, which is lower than the ClinGen PD VCEP threshold (<0.0001; PM2_Supporting). In summary, this variant meets the criteria to be classified as uncertain significance for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_supporting, PM3_supporting.

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