ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.809C>T (p.Ala270Val)

gnomAD frequency: 0.00001  dbSNP: rs147318988
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295723 SCV001484665 likely pathogenic Leukocyte adhesion deficiency 1 2022-08-22 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects ITGB2 function (PMID: 11703376). 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: 999697). This missense change has been observed in individual(s) with leukocyte adhesion deficiency type 1 (PMID: 11703376, 22134107, 25703682, 33391282). This variant is present in population databases (rs147318988, gnomAD 0.008%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 270 of the ITGB2 protein (p.Ala270Val).
GeneDx RCV004719127 SCV005326083 likely pathogenic not provided 2023-09-12 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on the expression of heterodimers and adhesion of heterodimers to the ligand (Shaw et al., 2001); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11703376, 25514840, 11212883, 25703682, 33391282, 29548898, 22134107)

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