ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2614C>A (p.Leu872Met) (rs149468422)

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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 RCV000343819 SCV001397488 benign Glanzmann thrombasthenia 2020-06-04 reviewed by expert panel curation The NM_000419.4:c.2614C>A variant that results in the Leu872Met amino acid change is reported at frequencies (2%; 0.02101 in the African subpopulation, with 5 homozygotes, in gnomAD) higher than the recommended threshold of 0.24%, in population databases. The variant is not reported in any GT patients in the literature. Experimental evidence suggests no impact to expression or function of the alphaIIbbeta3 complex. Computation evidence also suggests no impact with a REVEL score of 0.136. In summary, based on the available evidence, the Leu872Met variant is classified as "benign". GT-specific criteria applied: BA1, BS3, and BP4.
Illumina Clinical Services Laboratory,Illumina RCV000343819 SCV000403362 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.
Invitae RCV000343819 SCV001001169 benign Glanzmann thrombasthenia 2019-12-31 criteria provided, single submitter clinical testing

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