ClinVar Miner

Submissions for variant NM_014271.4(IL1RAPL1):c.424C>G (p.Leu142Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760228 SCV000890058 uncertain significance Intellectual disability, X-linked 21 2015-12-22 criteria provided, single submitter clinical testing
Invitae RCV003558557 SCV004293926 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 620022). This variant has not been reported in the literature in individuals affected with IL1RAPL1-related conditions. This variant is present in population databases (rs765477668, gnomAD 0.001%), including at least one homozygous and/or hemizygous individual. This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 142 of the IL1RAPL1 protein (p.Leu142Val).

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