ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1224G>A (p.Pro408=)

gnomAD frequency: 0.00001  dbSNP: rs777120738
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001307371 SCV001496781 uncertain significance Leukocyte adhesion deficiency 1 2022-01-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1009826). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. This variant is present in population databases (rs777120738, gnomAD 0.003%). This sequence change affects codon 408 of the ITGB2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ITGB2 protein. This variant also falls at the last nucleotide of exon 10, which is part of the consensus splice site for this exon.

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