ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.414G>C (p.Val138=)

gnomAD frequency: 0.00001  dbSNP: rs146957831
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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 RCV003235426 SCV003934977 uncertain significance Glanzmann thrombasthenia 2023-06-01 reviewed by expert panel curation After a comprehensive literature search of the synonymous variant NM_000212.3(ITGB3):c.414G>C (p.Val138=), no individuals with glanzmann thrombasthenia were reported with the variant. The variant has a minor allele frequency of 0.00001758 (2/113758 alleles) in the European (Non-Finnish) population in gnomAD, which meets the threshold criteria for PM2_supporting. In silico predictor spliceAI revealed that the synonymous mutation is not expected to impact splicing and a PhyloP score of -.103 shows that the nucleotide position is not highly conserved (BP4, BP7). Due to conflicting evidence, this variant is classified as a variant of unknown significance for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD-VCEP: PM2_Supporting, BP4, BP7. (PD VCEP specifications version 2.1).
Labcorp Genetics (formerly Invitae), Labcorp RCV000869775 SCV001011230 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing

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