ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1558G>A (p.Val520Ile)

gnomAD frequency: 0.00001  dbSNP: rs750612657
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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 RCV000301602 SCV001397505 uncertain significance Glanzmann thrombasthenia 2023-08-15 reviewed by expert panel curation This missense variant, NM_000212.3(ITGB3):c.1558G>A (p.Val520Ile) has not been reported in the literature to our knowledge and has only been observed by Illumina in a predisposition screen in an ostensibly healthy population. It occurs at a low allele frequency with a MAF of 0.00004006 (1/24964) in the African population in gnomADv2.1.1 (PM2_supporting). 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_Supporting (PD VCEP specifications version 2.1).
Illumina Laboratory Services, Illumina RCV000301602 SCV000403742 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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