ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.45G>C (p.Leu15Phe)

gnomAD frequency: 0.00009  dbSNP: rs138255946
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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 RCV001039074 SCV001202585 uncertain significance Agammaglobulinemia 4, autosomal recessive 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 15 of the BLNK protein (p.Leu15Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs138255946, ExAC 0.06%). 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. 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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