ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.400G>T (p.Asp134Tyr)

dbSNP: rs745917556
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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 RCV001350280 SCV001544671 uncertain significance Leukocyte adhesion deficiency 1 2020-04-20 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with leukocyte adhesion deficiency (LAD) type 1 (PMID: 27492259). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with tyrosine at codon 134 of the ITGB2 protein (p.Asp134Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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, but this prediction has not been confirmed by published transcriptional studies.

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