ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.745G>A (p.Gly249Arg)

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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 RCV002569538 SCV002937874 uncertain significance Agammaglobulinemia 4, autosomal recessive 2022-01-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 249 of the BLNK protein (p.Gly249Arg). This variant is present in population databases (rs143028297, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BLNK-related conditions. 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 tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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