ClinVar Miner

Submissions for variant NM_020070.4(IGLL1):c.21G>C (p.Gln7His)

gnomAD frequency: 0.00008  dbSNP: rs1044209410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699189 SCV000827889 uncertain significance Agammaglobulinemia 2, autosomal recessive 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 7 of the IGLL1 protein (p.Gln7His). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with IGLL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 576645). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Revvity Omics, Revvity RCV000699189 SCV003813343 uncertain significance Agammaglobulinemia 2, autosomal recessive 2021-08-13 criteria provided, single submitter clinical testing

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