ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) (rs958609406)

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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 RCV001003533 SCV001397566 pathogenic Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The NM_000212.2:c.565C>T (p.Pro189Ser) missense variant has been reported in at least three homozygotes and two compound heterozygous probands with phenotypes highly specific to GT (PMIDs: 31565851, 25728920, 24236036, 22250950). The variant has been shown to segregate in at least one family with two affected individuals (PMID: 31565851). This variant is at an extremely low frequency with a MAF of 0.00002638 in the South Asian population of gnomAD and multiple lines of computational evidence support a deleterious effect on the gene /gene product (REVEL score of 0.976). Pro189Ser has been expressed in CHO cells and found to have a 94% reduction in surface expression (PMID: 24236036). In summary, based on the available evidence at this time, the variant is classified as Pathogenic. GT-specific criteria applied: PS3_Moderate, PM2_Supporting, PM3_Strong, PP1, PP3, PP4_Strong.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003533 SCV001161859 likely pathogenic Glanzmann thrombasthenia no assertion criteria provided research

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