ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1410C>T (p.Cys470=)

gnomAD frequency: 0.00001  dbSNP: rs753427314
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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 RCV002005954 SCV002274001 uncertain significance Leukocyte adhesion deficiency 1 2022-10-24 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1484642). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. This variant is present in population databases (rs753427314, gnomAD 0.002%). This sequence change affects codon 470 of the ITGB2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ITGB2 protein.

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