ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.229G>T (p.Asp77Tyr)

dbSNP: rs141799330
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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 RCV001950214 SCV002206920 uncertain significance Leukocyte adhesion deficiency 1 2022-07-12 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1429937). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. This variant is present in population databases (rs141799330, gnomAD 0.01%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 77 of the ITGB2 protein (p.Asp77Tyr).

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