ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1985G>A (p.Arg662His)

gnomAD frequency: 0.00003  dbSNP: rs369443204
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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 RCV000394836 SCV001397525 uncertain significance Glanzmann thrombasthenia 2023-08-15 reviewed by expert panel curation The NM_000212.3(ITGB3):c.1985G>A (p.Arg662His) missense variant has been reported in PMID: 25827233 due to its presence in WES and/or WGS databases but has not been reported in association with a GT patient. It is present in the gnomADv2.1.1 East Asian population at an allele frequency of 0.0001002 (PM2 threshold of <1/10,000 Not Met). A REVEL score of 0.699 is insufficient to predict a damaging effect (PP3 threshold >0.7). In summary, this variant is classified as uncertain significance for autosomal recessive Glanzmann Thrombasthenia based on the application of no ACMG/AMP criteria (PD VCEP specifications version 2.1).
Illumina Laboratory Services, Illumina RCV000394836 SCV000403744 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.
Genetic Services Laboratory, University of Chicago RCV001820974 SCV002072212 likely pathogenic not provided 2017-09-29 criteria provided, single submitter clinical testing

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