ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2602-3C>G (rs763330792)

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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 RCV000003027 SCV001397514 likely pathogenic Glanzmann thrombasthenia 2020-09-04 reviewed by expert panel curation The NM_000419.4:c.2602-3C>G variant is a splice region variant that is predicted to result in abnormal splicing and is shown to skip exon 26 in RNA studies from a patient (PMID: 1317725). It is absent from population databases. At least 3 compound heterozygous probands are reported in the literature, with the other variants being Leu973AlafsTer63, Leu214Pro, and Ala777Asp (PMID: 15748238, PMID: 27696190, PMID: 29675921). In summary, based on the available evidence at this time, the c.2602-3C>G variant is classified as likely pathogenic. GT-specific criteria applied: PM2_supporting, PM3, PM4, PP3, PP4_strong.
OMIM RCV000003027 SCV000023185 pathogenic Glanzmann thrombasthenia 1992-06-15 no assertion criteria provided literature only

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