Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001585120 | SCV001818440 | likely benign | not provided | 2019-08-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002421219 | SCV002678415 | uncertain significance | Inborn genetic diseases | 2023-12-15 | criteria provided, single submitter | clinical testing | The c.804A>C (p.R268S) alteration is located in exon 7 (coding exon 6) of the IL1RAPL1 gene. This alteration results from a A to C substitution at nucleotide position 804, causing the arginine (R) at amino acid position 268 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV001585120 | SCV003305443 | uncertain significance | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 268 of the IL1RAPL1 protein (p.Arg268Ser). This variant is present in population databases (no rsID available, gnomAD 0.004%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with IL1RAPL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1215238). 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. 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003994312 | SCV004813049 | uncertain significance | not specified | 2024-02-07 | criteria provided, single submitter | clinical testing | Variant summary: IL1RAPL1 c.804A>C (p.Arg268Ser) results in a non-conservative amino acid change located in the Immunoglobulin subtype 2 domain (IPR003598) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 5.5e-06 in 183157 control chromosomes, including 1 hemizygote in gnomAD. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.804A>C in individuals affected with Intellectual disability, X-linked 21 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1215238). Based on the evidence outlined above, the variant was classified as uncertain significance. |