ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.392G>A (p.Arg131Gln)

gnomAD frequency: 0.00001  dbSNP: rs144615291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002533815 SCV003521753 uncertain significance not provided 2022-07-30 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of BLK-related conditions (PMID: 30191644). 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. Experimental studies have shown that this missense change affects BLK function (PMID: 31101814). 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: 619202). This variant is present in population databases (rs144615291, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 131 of the BLK protein (p.Arg131Gln).
PreventionGenetics, part of Exact Sciences RCV003411696 SCV004115319 uncertain significance BLK-related condition 2023-04-12 criteria provided, single submitter clinical testing The BLK c.392G>A variant is predicted to result in the amino acid substitution p.Arg131Gln. This variant has reported in a cohort of patients with diabetes (Table S5, Johnson et al 2019. PubMed ID: 30191644). This variant has also been reported in a cohort of patients with systemic lupus erythematosus (SLE) (Jiang SH et al 2019. PubMed ID: 31101814). This variant is reported in 0.0077% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-11407691-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Carola Vinuesa Lab, John Curtin School of Medical Research RCV000758182 SCV000886647 benign Systemic lupus erythematosus no assertion criteria provided research

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