ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter)

dbSNP: rs1464015799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782318 SCV002016742 likely pathogenic Leukocyte adhesion deficiency 1 2020-06-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001782318 SCV002810982 likely pathogenic Leukocyte adhesion deficiency 1 2022-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001782318 SCV004298802 pathogenic Leukocyte adhesion deficiency 1 2023-08-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1324598). This premature translational stop signal has been observed in individual(s) with leukocyte adhesion deficiency (PMID: 14512306). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Glu734*) in the ITGB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ITGB2 are known to be pathogenic (PMID: 22134107, 25703682).

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