ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.628G>C (p.Gly210Arg)

dbSNP: rs886053009
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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 RCV000299190 SCV004037411 uncertain significance Glanzmann thrombasthenia 2023-09-07 reviewed by expert panel curation After a thorough literature search the missense variant NM_000419.5(ITGA2B):c.628G>C (p.Gly210Arg) has not been found in any individuals with Glanzmann thrombasthenia. The variant is absent from gnomAD (PM2_supporting). The variant was originally identified by Illumina as part of a predisposition screen in an ostensibly healthy population. The computational predictor REVEL gives a score of 0.665, which is below the ClinGen PD VCEP PP3 threshold of >0.7 and does not predict a damaging effect on ITGA2B function (PP3 not met). In summary, this variant meets the criteria to be classified as uncertain significance - insufficient evidence for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_supporting (VCEP specifications version 2).
Illumina Laboratory Services, Illumina RCV000299190 SCV000403387 uncertain significance 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, 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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