ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.994-1G>C

dbSNP: rs1293268696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823479 SCV002072946 likely pathogenic Leukocyte adhesion deficiency 1 criteria provided, single submitter clinical testing The splice acceptor variant c.994-1G>C in ITGB2 (NM_000211.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.994-1G>C variant is observed in 1/30,616 (0.0033%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant affects an invariant splice nucleotide and is predicted to cause loss of function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic

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