ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln)

dbSNP: rs13306487
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001127592 SCV001809920 benign Glanzmann thrombasthenia 2021-05-07 reviewed by expert panel curation The NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln) missense variant occurs at an allele frequency of 0.02211 in the gnomAD East Asian population and is predicted, by REVEL score of 0.183, to have no impact on the gene or gene product. This variant has been reported in the literature multiple times (including PMIDs: 7694683 and 8457479) as the alloantigenic site HPA-6 (formerly known as Ca/Tu). In summary, the variant is classified as benign for GT. GT-specific criteria applied: BA1 and BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV000862496 SCV001003009 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001127592 SCV001286919 uncertain significance Glanzmann thrombasthenia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Breakthrough Genomics, Breakthrough Genomics RCV000862496 SCV005249347 benign not provided criteria provided, single submitter not provided
OMIM RCV000014528 SCV000034779 benign Ca/Tu ALLOANTIGEN POLYMORPHISM 1993-12-01 no assertion criteria provided literature only

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