ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.845G>A (p.Arg282Gln)

gnomAD frequency: 0.00002  dbSNP: rs782231780
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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 RCV000792915 SCV000932242 uncertain significance Agammaglobulinemia 4, autosomal recessive 2018-11-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 282 of the BLNK protein (p.Arg282Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with BLNK-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV003344047 SCV004060322 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.845G>A (p.R282Q) alteration is located in exon 12 (coding exon 12) of the BLNK gene. This alteration results from a G to A substitution at nucleotide position 845, causing the arginine (R) at amino acid position 282 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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