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

gnomAD frequency: 0.00662  dbSNP: rs149468422

Total submissions: 4

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 αIIbβ3 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 Laboratory Services, 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	2024-01-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820969	SCV002072025	likely benign	not specified	2020-06-10	criteria provided, single submitter	clinical testing