ClinVar Miner

Submissions for variant NM_000212.2(ITGB3):c.1960G>A (p.Glu654Lys) (rs70940817)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen RCV001123488 SCV001397478 benign Glanzmann thrombasthenia 2019-09-18 reviewed by expert panel curation This missense, c.1960G>A (p.Glu654Lys) variant occurs at an overall allele frequency in gnomAD of 0.0006917 with a MAF of 0.0005056 (138/19954 alleles, including 1 homozygote) in the East Asian population. Computational evidence does not support a deleterious effect on the gene/gene product. This variant meets criteria to be classified as Benign by the ClinGen Platelet Disorders VCEP. GT-specific criteria met: BA1.
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490340 SCV000267367 uncertain significance Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000865543 SCV001006531 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001123488 SCV001282329 likely benign Glanzmann thrombasthenia 2017-04-28 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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