Submissions for variant NM_000419.5(ITGA2B):c.2916G>A (p.Pro972=)

gnomAD frequency: 0.00354  dbSNP: rs5913

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen	RCV000861020	SCV001397554	benign	Glanzmann thrombasthenia	2021-05-07	reviewed by expert panel	curation	The c.2916G>A; p.Pro972= synonymous variant has not been reported in the literature to our knowledge. It is present in a non-Finnish European control population at an allele frequency of 0.005351 and no splice impact is predicted. In summary, this variant meets criteria to be classified as benign for GT. GT-specific criteria applied: BA1, BP4, and BP7.
Genetic Services Laboratory, University of Chicago	RCV000502076	SCV000595271	likely benign	not specified	2017-03-07	criteria provided, single submitter	clinical testing
Invitae	RCV000861020	SCV001001223	benign	Glanzmann thrombasthenia	2024-01-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000861020	SCV001287543	likely benign	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV003419861	SCV004140677	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ITGA2B: BP4, BP7, BS2