ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.207C>T (p.Gly69=) (rs375882355)

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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 RCV000307132 SCV001478532 likely benign Glanzmann thrombasthenia 2020-08-18 reviewed by expert panel curation The NM_000419.5:c.207C>T variant in ITGA2B predicts a synonymous change, Gly69=. It has been reported at a high frequency in the Ashkenazi Jewish population, 0.01299 (1.2%; 126/9700 alleles) with 1 homozygote, in gnomAD v2.1.1. The variant occurs at a nucleotide that is not conserved and splicing predictors do not concur in predicting the creation of a new site. The variant has not been reported in GT patients in the literature to the best of our knowledge. In summary, the variant meets criteria to be classified as likely benign. GT-specific criteria applied: BS1, BP7.
Illumina Clinical Services Laboratory,Illumina RCV000307132 SCV000403393 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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