ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.2085C>T (p.Tyr695=)

gnomAD frequency: 0.00006  dbSNP: rs373450805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000308557 SCV005061689 likely benign Glanzmann thrombasthenia 2024-02-20 reviewed by expert panel curation The c.2085C>T variant in ITGB3 is a single nucleotide substitution that does not alter the protein sequence (p.Tyr695=). This variant is predicted by SpliceAI to have no significant splicing motif alteration detected (Delta score 0.00) and the nucleotide is not highly conserved (PhyloP score 0.24806) (BP4, BP7). This variant occurs at a very low allele frequency overall in gnomAD v4.0.0 of 0.00004523 with a MAF of 0.00004005 (3/74910) in African/ African American subpopulation (PM2_Supporting). In summary, this variant meets the criteria to be classified as Likely Benign for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: BP7, PM2_Supporting, BP4
Illumina Laboratory Services, Illumina RCV000308557 SCV000403745 uncertain significance Glanzmann thrombasthenia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002522983 SCV003512991 likely benign not provided 2024-09-21 criteria provided, single submitter clinical testing

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