ClinVar Miner

Submissions for variant NM_004517.4(ILK):c.446G>A (p.Arg149Gln)

gnomAD frequency: 0.00003  dbSNP: rs869025437
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208422 SCV000263953 uncertain significance Long QT syndrome 2015-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000520010 SCV000619886 uncertain significance not provided 2017-08-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ILK gene. The R149Q variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R149Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to arginine (R) are tolerated across species and where glutamine (Q) is present as the wild type in at least one species. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp RCV001211006 SCV001382527 uncertain significance Primary familial hypertrophic cardiomyopathy 2023-10-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 149 of the ILK protein (p.Arg149Gln). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ILK-related conditions. ClinVar contains an entry for this variant (Variation ID: 222652). 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.
Ambry Genetics RCV004020557 SCV002636668 uncertain significance not specified 2023-11-08 criteria provided, single submitter clinical testing The p.R149Q variant (also known as c.446G>A), located in coding exon 4 of the ILK gene, results from a G to A substitution at nucleotide position 446. The arginine at codon 149 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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